Nasal discharge of clear fluid and a recent head injury makes basal skull fracture the most likely underlying cause for facial nerve palsy.

Facial palsy is a neurological condition in which function of the facial nerve (cranial nerve VII) is partially or completely lost. It is often idiopathic (Bell’s palsy) but in some cases, specific causes such as trauma (e.g. temporal bone fracture), infections, or metabolic disorders can be identified. Two major types are distinguished:

1. Central facial palsy—lesion occurs between cortex and nuclei in the brainstem
2. Peripheral facial palsy—lesion occurs between nuclei in the brainstem and peripheral organs

Diagnosis can usually be made clinically while patient’s history often helps in evaluating the underlying aetiology.
Patients with basal skull fracture following head injury (as in this case) exhibit Battle’s sign on examination. It is an indication of fracture of middle cranial fossa of the skull and consists of bruising over the mastoid process as a result of extravasation of blood along the path of the posterior auricular artery. Clinical presence of CSF leak further supports the diagnosis.

Assessment options for basal skull fracture include CT and MRI scan. Idiopathic facial nerve palsy is treated with oral glucocorticoids and, in severe cases, with antivirals. Treatment of the other types depends on the underlying cause. Prophylactic antibiotics are given in cases of CSF leak.

Acute pancreatitis is an inflammatory condition of the pancreas most commonly caused by biliary tract disease or alcohol abuse. Damage to the pancreas causes local release of digestive proteolytic enzymes that autodigest pancreatic tissue. Acute pancreatitis usually presents with epigastric pain radiating to the back, nausea and vomiting, and epigastric tenderness on palpation. The diagnosis is made based on the clinical presentation, elevated serum pancreatic enzymes, and findings on imaging (CT, MRI, ultrasound) that suggest acute pancreatitis. Treatment is mostly supportive and includes bowel rest, fluid resuscitation, and pain medication. Enteral feeding is usually quickly resumed once the pain and inflammatory markers begin to subside. Interventional procedures may be indicated for the treatment of underlying conditions, such as ERCP or cholecystectomy in gallstone pancreatitis. Localized complications of pancreatitis include necrosis, pancreatic pseudocysts, and abscesses. Systemic complications involve sepsis, ARDS, organ failure, and shock and are associated with a considerable rise in mortality.

The Ranson score is used to predict the severity of acute pancreatitis:
At admission
age in years > 55 years
white blood cell count > 16000 cells/mm3
blood glucose > 11.1 mmol/L (> 200 mg/dL)
serum AST > 250 IU/L
serum LDH > 350 IU/L

At 48 hours
Calcium (serum calcium < 2.0 mmol/L (< 8.0 mg/dL)
Haematocrit fall >10%
Oxygen (hypoxemia PO2 < 60 mmHg)
BUN increased by 1.8 or more mmol/L (5 or more mg/dL) after IV fluid hydration
Base deficit (negative base excess) > 4 mEq/L
Sequestration of fluids > 6 L

Interpretation If the score ≥ 3, severe pancreatitis likely. If the score < 3, severe pancreatitis is unlikely Or Score 0 to 2 : 2% mortality Score 3 to 4 : 15% mortality Score 5 to 6 : 40% mortality Score 7 to 8 : 100% mortality

Based on the history and examination findings, the correct diagnosis is false aneurysm of the femoral artery. It may occur following arterial trauma in intravenous drug users.

A false aneurysm, or pseudoaneurysm of the vessels, occurs when a blood vessel wall is injured and the leaking blood collects in the surrounding tissue. It is not an enlargement of any of the layers of the vessel wall. Pseudoaneurysms usually present as a painful, tender, pulsatile mass. Diagnostic options include duplex scan, and CT angiogram or a conventional angiogram.

In a true aneurysm, the artery or vessel weakens and bulges, usually forming a blood-filled sac.

Juvenile polyps are benign hamartomas with neoplastic potential that are the most frequent gastrointestinal polyp of childhood, with the peak incidence between 3 and 5 years of age.. The presence of multiple juvenile polyps may indicate a premalignant condition commonly named juvenile polyposis coli or juvenile polyposis syndrome (JPS). In contrast, single or solitary juvenile polyps generally are considered benign sporadic lesions that confer little to no future risk of malignancy. Most frequent presentation is painless rectal bleeding. Other features include a prolapsing rectal mass and abdominal pain.

The Galeazzi fracture is a fracture of the middle to distal one-third of the radius associated with dislocation or subluxation of the distal radioulnar joint. It presents with pain, swelling and deformity. Physical examination reveals point tenderness over the fracture site. Isolated fracture of radius is rare and there usually is an associated injury.

Other fractures:
– Colles’ fracture (dinner fork deformity): fall onto extended outstretched hand. Classical Colles’ fractures have 3 features:
1. Transverse fracture of the radius
2. 1 inch proximal to the radio-carpal joint
3. Dorsal displacement and angulation

– Smith’s fracture (reverse Colles’ fracture): volar angulation of distal radius fragment (Garden spade deformity). Caused by falling backwards onto the palm of an outstretched hand or falling with wrists flexed

– Bennett’s fracture: Intra-articular fracture of the first carpometacarpal joint. Impact on flexed metacarpal, caused by fist fights

– Monteggia’s fracture: dislocation of the proximal radioulnar joint in association with an ulna fracture. Caused by a fall on outstretched hand with forced pronation.

– Pott’s fracture: Bimalleolar ankle fracture from forced foot eversion

– Barton’s fracture: Distal radius fracture (Colles’/Smith’s) with associated radiocarpal dislocation from a fall onto extended and pronated wrist

– Holstein Lewis Fracture: fracture of the distal third of the humerus resulting in entrapment of the radial nerve.

A thyroglossal duct cyst (TGDC) is the most common mass found in the midline of the neck. The mass is usually located at or below the level of the hyoid bone, although a TGDC can be located anywhere from the foramen cecum to the level of the thyroid gland.
Most patients with a TGDC present with asymptomatic masses in the midline of the neck.
Recurrent inflammation associated with infection of a TGDC is not uncommon. When an infection is present, the cyst often enlarges and an abscess may form. Spontaneous rupture with secondary sinus tract formation can also occur.

The surgical treatment of choice for thyroglossal cysts is the Sistrunk operation, in which an en block resection of the sinus tract and above (including the midportion of the hyoid bone) is performed. Recurrence is approximately 3-5% and is increased by incomplete excision and a history of recurrent infections.

Answer: Ankylosing spondylitis

Ankylosing spondylitis (AS), a spondyloarthropathy, is a chronic, multisystem inflammatory disorder involving primarily the sacroiliac (SI) joints and the axial skeleton. Key components of the patient history that suggest AS include the following:
Insidious onset of low back pain – The most common symptom
Onset of symptoms before age 40 years
Presence of symptoms for more than 3 months
Symptoms worse in the morning or with inactivity
Improvement of symptoms with exercise

General symptoms of AS include the following:

Those related to inflammatory back pain – Stiffness of the spine and kyphosis resulting in a stooped posture are characteristic of advanced-stage AS.
Peripheral enthesitis and arthritis
Constitutional and organ-specific extra-articular manifestations
Fatigue is another common complaint, occurring in approximately 65% of patients with AS. Increased levels of fatigue are associated with increased pain and stiffness and decreased functional capacity.
Pharmacologic therapy

Agents used in the treatment of AS include the following:

Nonsteroidal anti-inflammatory drugs (NSAIDs)
Sulfasalazine
Tumour necrosis factor-α (TNF-α) antagonists
Corticosteroids

AS is the prototype of the spondyloarthropathies, a family of related disorders that also includes reactive arthritis (ReA), psoriatic arthritis (PsA), spondyloarthropathy associated with inflammatory bowel disease (IBD), undifferentiated spondyloarthropathy (USpA), and, possibly, Whipple disease and Behçet disease (see the image below). The spondyloarthropathies are linked by common genetics (the human leukocyte antigen [HLA] class-I gene HLA-B27) and a common pathology (enthesitis). The aetiology of AS is not understood completely; however, a strong genetic predisposition exists. A direct relationship between AS and the HLA-B27 gene has been determined. The precise role of HLA-B27 in precipitating AS remains unknown; however, it is believed that HLA-B27 may resemble or act as a receptor for an inciting antigen (e.g., a bacterial antigen).

Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine (the pylorus). Symptoms include projectile vomiting without the presence of bile. This most often occurs after the baby is fed. The typical age that symptoms become obvious is two to twelve weeks old.

The cause of pyloric stenosis is unclear. Risk factors in babies include birth by caesarean section, preterm birth, bottle feeding, and being first born. The diagnosis may be made by feeling an olive-shaped mass in the baby’s abdomen. This is often confirmed with ultrasound. It is four times more likely to occur in males, and is also more common in the first born. Rarely, infantile pyloric stenosis can occur as an autosomal dominant condition.

It is uncertain whether it is a congenital anatomic narrowing or a functional hypertrophy of the pyloric sphincter muscle.
Babies with this condition usually present any time in the first weeks to months of life with progressively worsening vomiting. The vomiting is often described as non-bile stained (non bilious) and projectile vomiting, because it is more forceful than the usual spitting up (gastroesophageal reflux) seen at this age. Some infants present with poor feeding and weight loss but others demonstrate normal weight gain. Dehydration may occur which causes a baby to cry without having tears and to produce less wet or dirty diapers due to not urinating for hours or for a few days. Symptoms usually begin between 3 to 12 weeks of age. Findings include epigastric fullness with visible peristalsis in the upper abdomen from the person’s left to right. Constant hunger, belching, and colic are other possible signs that the baby is unable to eat properly.

Answer: Surgery over the next few days

Inguinal hernia is a type of ventral hernia that occurs when an intra-abdominal structure, such as bowel or omentum, protrudes through a defect in the abdominal wall. Inguinal hernias do not spontaneously heal and must be surgically repaired because of the ever-present risk of incarceration. Generally, a surgical consultation should be made at the time of diagnosis, and repair (on an elective basis) should be performed very soon after the diagnosis is confirmed.

The infant or child with an inguinal hernia generally presents with an obvious bulge at the internal or external ring or within the scrotum. The parents typically provide the history of a visible swelling or bulge, commonly intermittent, in the inguinoscrotal region in boys and inguinolabial region in girls.
The swelling may or may not be associated with any pain or discomfort.

Transplant renal artery stenosis (TRAS) is a well-recognized vascular complication after kidney transplant. It occurs most frequently in the first 6 months after kidney transplant, and is one of the major causes of graft loss and premature death in transplant recipients. Transplant renal artery stenosis (TRAS) is the narrowing of the transplant renal artery, impeding blood flow to the allograft. It accounts for 1–5% cases of post-transplant hypertension. Patients with TRAS have activated RAAS and usually present with worsening or refractory hypertension, fluid retention and/or allograft dysfunction without evidence of rejection.
Percutaneous transluminal angioplasty with stent placement is generally the first-line therapy to correct hemodynamically significant stenosis in TRAS, especially for lesions that are short, linear and distal to the anastomosis.

Surgical resection is the principal therapy for gastric cancer, as it offers the only potential for cure. A subtotal gastrectomy is usually performed for tumours of the distal stomach. Subtotal gastrectomy is the treatment of choice for middle and distal-third gastric cancer as it provides similar survival rates and better functional outcome compared to total gastrectomy, especially in early-stage disease with favourable prognosis. D2 dissections are recommended by the National Comprehensive Cancer Network over D1 dissections. A pancreas-and spleen-preserving D2 lymphadenectomy is suggested, as it provides greater staging information, and may provide a survival benefit while avoiding its excess morbidity when possible. Patients that undergo D2 lymphadenectomy as a standard part of surgical resection of gastric adenocarcinoma generally have better stage-for-stage overall survival figures compared to patients undergoing less extensive lymphadenectomies.
After partial gastrectomy, some patients report disorders such as reflux esophagitis and alkaline gastritis, as well as dumping syndrome, delayed gastric emptying and malabsorption, which are defined as functional dyspepsia. Duodenogastric reflux is recognized to be a major cause of clinical symptoms after resection.
Roux-Y reconstruction seems to be effective in reducing bile reflux into the stomach, compared to Billroth I and II procedure, and conversion to this procedure has been reported in patients with symptomatic uncontrolled reflux disease.

The posterior drawer test is a physical exam technique that is done to assess the integrity of the posterior cruciate ligament (PCL). The PCL is attached to the posterior intercondylar area of the tibia and passes anteriorly, medially, and upward to attach to the lateral side of the medial femoral condyle.
This ligament prevents backward displacement of the tibia or forward sliding of the femur. Injury to the ligament allows displacement of the tibia

Unlike other cancers for which a biopsy is performed, when testicular cancer is suspected the entire testicle is removed in a procedure called an orchiectomy through an incision in the groin and pulling the testicle up from the scrotum. A biopsy through the scrotum for testicular cancer runs the risk of spreading the cancer, and can complicate future treatment options. Removing the entire testicle out of the scrotum is the only safe way to diagnose for testicular cancer. Only the cancer-containing testicle is removed, and it is important to do so promptly.
If there is any uncertainty, the urologists can examine the testicle by pulling the testicle out of the scrotum; if a condition other than testis cancer is found, the testicle is placed back into the scrotum.

Testicular cancer is the most common malignancy in men aged 20-30 years. Around 95% of cases of testicular cancer are germ-cell tumours.

In children, more common causes of Urinary tract obstruction include the following:
UPJ or UVJ obstruction
Ectopic ureter
Ureterocoele
Megaureter
Posterior urethral valves

Posterior urethral valves:

During the early stages of embryogenesis, the most caudal end of the wolffian duct is absorbed into the primitive cloaca at the site of the future verumontanum in the posterior urethra. In healthy males, the remnants of this process are the posterior urethral folds, called plicae colliculi. Histologic studies suggest that PUVs are formed at approximately 4 weeks’ gestation, as the wolffian duct fuses with the developing cloaca.
Congenital obstructing posterior urethral membrane (COPUM) was first proposed by Dewan and Goh and was later supported by histologic studies by Baskin. This concept proposes that instead of a true valve, a persistent oblique membrane is ruptured by initial catheter placement and, secondary to rupture, forms a valve like configuration.
Indicators of possible PUVs later in childhood include the following:
Urinary tract infection (UTI)
Diurnal enuresis in boys older than 5 years
Secondary diurnal enuresis
Voiding pain or dysfunction
Abnormal urinary stream

Answer: Transposition of the great arteries

Transposition of the great arteries (TGA) is the most common cyanotic congenital heart lesion that presents in neonates. The hallmark of transposition of the great arteries is ventriculoarterial discordance, in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.

Infants with transposition of the great arteries (TGA) are usually born at term, with cyanosis apparent within hours of birth.

The clinical course and manifestations depend on the extent of intercirculatory mixing and the presence of associated anatomic lesions. Note the following:

Transposition of the great arteries with intact ventricular septum: Prominent and progressive cyanosis within the first 24 hours of life is the usual finding in infants if no significant mixing at the atrial level is evident.

Transposition of the great arteries with large ventricular septal defect: Infants may not initially manifest symptoms of heart disease, although mild cyanosis (particularly when crying) is often noted. Signs of congestive heart failure (tachypnoea, tachycardia, diaphoresis, and failure to gain weight) may become evident over the first 3-6 weeks as pulmonary blood flow increases.

Transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: Infants often present with extreme cyanosis at birth, proportional to the degree of left ventricular (pulmonary) outflow tract obstruction. The clinical history may be similar to that of an infant with tetralogy of Fallot.

Transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease: Progressively advancing pulmonary vascular obstructive disease can prevent this rare subgroup of patients from developing symptoms of congestive heart failure, despite a large ventricular septal defect. Most often, patients present with progressive cyanosis, despite an early successful palliative procedure.

The ova of Schistosoma haematobium are deposited in the wall of the bladder and ureters, where they evoke a granulomatous inflammatory reaction with eventual calcification of the bladder wall. The typical presentation is painful terminal haematuria. Secondary bacterial infection may occur, particularly with Pseudomonas, Proteus or Salmonella, especially following instrumentation of the bladder.

Rejection is related primarily to activation of T cells, which, in turn, stimulate specific antibodies against the graft. Various clinical syndromes of rejection can be correlated with the length of time after transplantation.

Hyperacute rejection
Hyperacute rejection of the renal allograft happens in the operating room within hours of the transplant, when the graft becomes mottled and cyanotic. This type of rejection is due to unrecognized compatibility of blood groups A, AB, B, and O (ABO) or to a positive T-cell crossmatch (class I human leukocyte antigen [HLA] incompatibility).
It is thought that IgG antibodies from the host bind to HLA-1 antigen of the donated organ.
No treatment exists, and nephrectomy is indicated.

Acute rejection
Acute rejection appears within the first 6 months after transplantation and affects approximately 15% of transplanted kidneys. Rejection is secondary to prior sensitization to donor alloantigens (occult T-cell crossmatch) or a positive B-cell crossmatch.
Acute tubular interstitial cellular rejection is the most common type of rejection reaction, with an incidence of approximately 20-25%. Typically, it occurs between 1 and 3 months after transplantation. It is T-cell mediated, and injury is directed to the renal tubules. The standard for diagnosis is renal allograft biopsy. Mild rejections may be successfully reversed with corticosteroids alone, whereas moderate or severe rejections may require the use of anti–T-cell antibodies, either polyclonal or monoclonal.
Late acute rejection is strongly correlated with the scheduled withdrawal of immunosuppressive therapy 6 months after transplantation.

Chronic rejection
Chronic rejection occurs more than 1 year after transplantation and is a major cause of allograft loss. It is a slow and progressive deterioration in renal function characterized by histologic changes involving the renal tubules, capillaries, and interstitium. Its precise mechanism is poorly defined and is an area of intense study. Diagnosis is by renal biopsy, and treatment depends on the identified cause if any. Application of conventional antirejection agents (e.g., corticosteroids or anti–T-cell antibodies) does not appear to alter the progressive course.

This patient is a case of fistula-in-ano.

A fistula-in-ano is an abnormal hollow tract or cavity that is lined with granulation tissue and that connects a primary opening inside the anal canal to a secondary opening in the perianal skin; secondary tracts may be multiple and can extend from the same primary opening. Fistulae usually occur following previous ano-rectal sepsis. The discharge may be foul smelling and troublesome.

Fistula-in-ano is classified into two groups based on its anatomical location.
1. Low fistula: relatively close to the skin and passes through a few or no sphincter muscle fibres, crosses <30% external sphincter
2. High fistula: passes through a large amount of muscle

Assessment of fistula-in-ano includes:
1. Examination of the perineum
2. Digital rectal examination (DRE)
Low, uncomplicated fistulas may not require any further assessment. Other groups will usually require more detailed investigation.
3. Endo-anal USS
4. Ano-rectal MRI scan

Treatment options include:
1. Seton suture
2. Fistulotomy: Low fistulas that are simple should be treated by fistulotomy once the acute sepsis has been controlled. Fistulotomy (where safe) provides the highest healing rates.
3. Anal fistula plugs and fibrin glue
4. Ano-rectal advancement flaps: primarily for high fistulae

A scaphoid fracture is a break of the scaphoid bone in the wrist. Symptoms generally include pain at the base of the thumb which is worse with use of the hand. The anatomic snuffbox is generally tender and swelling may occur. Complications may include non-union of the fracture, avascular necrosis, and arthritis.

Scaphoid fractures are most commonly caused by a fall on an outstretched hand. Diagnosis is generally based on examination and medical imaging. Some fractures may not be visible on plain X-rays. In such cases a person may be casted with repeat X-rays in two weeks or an MRI or bone scan may be done.
Scaphoid fractures are often diagnosed by PA and lateral X-rays. However, not all fractures are apparent initially. Therefore, people with tenderness over the scaphoid (those who exhibit pain to pressure in the anatomic snuff box) are often splinted in a thumb spica for 7–10 days at which point a second set of X-rays is taken. If there was a hairline fracture, healing may now be apparent. Even then a fracture may not be apparent. A CT Scan can then be used to evaluate the scaphoid with greater resolution. The use of MRI, if available, is preferred over CT and can give one an immediate diagnosis. Bone scintigraphy is also an effective method for diagnosing a fracture which does not appear on x-ray.

The patient has a right groin hernia since he has a reducible lump and a history of carrying heavy objects.
Inguinal hernias present with a reducible lump in the groin.
A third of patients scheduled for surgery have no pain, and severe pain is uncommon (1.5% at rest and 10.2% on movement).
Inguinal hernias are at risk of irreducibility or incarceration, which may result in strangulation and obstruction; however, unlike with femoral hernias, strangulation is rare.
Inguinal hernias are often classified as direct or indirect, depending on whether the hernia sac bulges directly through the posterior wall of the inguinal canal (direct hernia) or passes through the internal inguinal ring alongside the spermatic cord, following the coursing of the inguinal canal (indirect hernia).

Surgery is the only curative treatment.
If patients with asymptomatic inguinal hernia are medically fit, they should be offered repair
Mesh repair is associated with the lowest recurrence rates of hernia
Laparoscopic repair is suggested for recurrent and bilateral inguinal hernias, though it may also be offered for primary inguinal hernia repair
The EuraHS recommendations:
– For Primary unilateral Hernia: Mesh repair, Lichtenstein or endoscopic repair are recommended. Endoscopic repair only if expertise is available.
– Primary bilateral: Mesh repair, Lichtenstein or endoscopic.
– Recurrent inguinal hernia: Mesh repair, modifying the technique with respect to the previous technique.
– If previously anterior: Consider open preperitoneal mesh or endoscopic approach (if expertise is present).
– If previously posterior: Consider an anterior mesh

In inguinal hernia tension-free repair, synthetic non-absorbable flat meshes (or composite meshes with a non-absorbable component) should be used.

Oesophageal dysphagia occurs when there is a difficulty with the passage of solid or liquid material through the oesophagus, specifically the region between the upper and lower oesophageal sphincter. It results from either abnormal motility of this segment of the oesophagus or obstruction.
Common causes of dysphagia:
Gastro-oesophageal reflux—waterbrash, regurgitation, due to dysmotility or stricture
Achalasia—classically hold-up relieved by carbonated beverages
Motility disorders—may be associated with central chest pain, systemic disease (scleroderma, dermatomyositis)
Oesophageal cancer—progressive, weight loss
Head and neck cancer—pain, dysphagia, otalgia, >90% smokers, often excess alcohol consumption
Pharyngeal pouch—slowly progressive, regurgitation, gurgling
Web—able to swallow only small amounts, “can’t swallow tablets”
Stroke
Neurodegenerative disorders—parkinsonism, motor neurone disease, multiple sclerosis, myasthenia gravis
Presbyphagia

Endoscopy has the advantage of potentially yielding a histological diagnosis. The overall rate of oesophageal perforation after flexible endoscopy involving oesophageal instrumentation, biopsy, or dilatation is 2.6%

Oesophageal manometry remains the investigation of choice in suspected motility disorders. Manometry can classify oesophageal dysmotility into rare specific disorders such as achalasia and diffuse oesophageal spasm or more common non-specific motility disorders that do not respond directly to drug treatment but may improve if related reflux or psychiatric disturbances are treated. The symptoms of non-specific motility disorders may have an uncertain relation to the manometric abnormalities

Management is based on the history, findings of the clinical investigations, and prognosis for the individual patient. The underlying disorder is treated, but the impact of dysphagia on nutrition and hydration will compromise any intervention unless managed effectively. Poor physical condition from malnutrition or dehydration will lead to a suboptimal rehabilitation process, in both duration and completeness of recovery and inadequate management of dysphagia contributes to this. A malnourished person is at risk of decompensation of the swallow, leading to dysphagia. The clinical swallow assessment is used to determine safely modified diets that reduce malnutrition and dehydration. This may range from nil by mouth with total enteral support to full oral route or a balance of the two. Enteral feeding is essential to maintain nutritional status when oral feeding is suspended, even if only for a short time. Prompt involvement of a dietitian is thus essential.

Answer: Rickets

Rickets is a disease of growing bone that is unique to children and adolescents. It is caused by a failure of osteoid to calcify in a growing person.
The signs and symptoms of rickets can include:

pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily; the child’s walk may look different (waddling)
skeletal deformities – thickening of the ankles, wrists and knees, bowed legs, soft skull bones and, rarely, bending of the spine
dental problems – including weak tooth enamel, delay in teeth coming through and increased risk of cavities
poor growth and development – if the skeleton doesn’t grow and develop properly, the child will be shorter than average
fragile bones – in severe cases, the bones become weaker and more prone to fractures.

Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.
A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture.

Osteoporosis is a disease in which bone weakening increases the risk of a broken bone. It is the most common reason for a broken bone among the elderly. Bones that commonly break include the vertebrae in the spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. Chronic pain and a decreased ability to carry out normal activities may occur following a broken bone.

Osteoporosis may be due to lower-than-normal maximum bone mass and greater-than-normal bone loss. Bone loss increases after menopause due to lower levels of oestrogen. Osteoporosis may also occur due to a number of diseases or treatments, including alcoholism, anorexia, hyperthyroidism, kidney disease, and surgical removal of the ovaries.

The classic symptom of subarachnoid haemorrhage is thunderclap headache (a headache described as like being kicked in the head, or the worst ever, developing over seconds to minutes). This headache often pulsates towards the occiput (the back of the head). About one-third of people have no symptoms apart from the characteristic headache, and about one in ten people who seek medical care with this symptom are later diagnosed with a subarachnoid haemorrhage. Vomiting may be present, and 1 in 14 have seizures. Confusion, decreased level of consciousness or coma may be present, as may neck stiffness and other signs of meningism.
In 85 percent of spontaneous cases the cause is a cerebral aneurysm—a weakness in the wall of one of the arteries in the brain that becomes enlarged. They tend to be located in the circle of Willis and its branches. While most cases are due to bleeding from small aneurysms, larger aneurysms (which are less common) are more likely to rupture. Aspirin also appears to increase the risk.
In 15–20 percent of cases of spontaneous SAH, no aneurysm is detected on the first angiogram. About half of these are attributed to non-aneurysmal perimesencephalic haemorrhage, in which the blood is limited to the subarachnoid spaces around the midbrain (i.e. mesencephalon). In these, the origin of the blood is uncertain. The remainder are due to other disorders affecting the blood vessels (such as cerebral arteriovenous malformations), disorders of the blood vessels in the spinal cord, and bleeding into various tumours.
Genetics may play a role in a person’s disposition to SAH; risk is increased three- to fivefold in first-degree relatives of people having had a subarachnoid haemorrhage. But lifestyle factors are more important in determining overall risk. These risk factors are smoking, hypertension (high blood pressure), and excessive alcohol consumption.
The absence of trauma and skull fracture rules out the other types of haemorrhages and haematomas.

This patient is likely to have paralytic ileus and the administration of antiemetic drugs, in this situation, will have no effect. It is, therefore, important to decompress the stomach with a wide bore nasogastric tube.

Paralytic ileus is the obstruction of the intestine due to paralysis of the intestinal muscles. It commonly occurs after an abdominal surgery. Irrespective of the cause, paralytic ileus causes constipation, abdominal distention, nausea, and vomiting. It is a severe condition because if left untreated, an ileus can cut off blood supply to the intestines and cause tissue death.

This patient has aphonia due to bilateral damage to the recurrent laryngeal nerve. Bilateral recurrent laryngeal nerve (RLN) injury is rare for benign thyroid lesions (0.2%). After extubation-stridor, respiratory distress, aphonia occurs due to the closure of the glottic aperture necessitating immediate intervention and emergency intubation or tracheostomy. Intra-operative identification and preservation of the RLN minimizes the risk of injury.
The recurrent laryngeal nerves control all intrinsic muscles of the larynx except for the cricothyroid muscle. These muscles act to open, close, and adjust the tension of the vocal cords, and include the posterior cricoarytenoid muscles, the only muscle to open the vocal cords. The nerves supply muscles on the same side of the body, with the exception of the interarytenoid muscle, which is innervated from both sides.

The nerves also carry sensory information from the mucous membranes of the larynx below the lower surface of the vocal fold, as well as sensory, secretory and motor fibres to the cervical segments of the oesophagus and the trachea.

This is a case of a high-velocity injury and, therefore, requires surgical fixation.

Bony injury resulting in a fracture may occur due to trauma (excessive force applied to bone), stress (repetitive low-velocity injury), or underlying pathology (abnormal bone which fractures during normal use or following minimal trauma).

Diagnosis involves not just evaluating the fracture, such as the site and type of injury, but also other associated injuries and distal neurovascular status. This may entail not just clinical examination but radiographs of proximal and distal joints. When assessing x-rays, it is important to assess for changes in the length of the bone, the angulation of the distal bone, rotational effects, and the presence of a foreign body such as glass.

A small number of foreign body aspirations are incidentally found after chest radiography or bronchoscopic inspection. Patients may be asymptomatic or may be undergoing testing for other diagnoses. If present, physical findings may include stridor, fixed wheeze, localized wheeze, or diminished breath sounds. If obstruction is severe, cyanosis may occur. Signs of consolidation can accompany post obstructive pneumonia.

Bronchoscopy can be used diagnostically and therapeutically. Most aspirated foreign bodies are radiolucent. Radiologic procedures do not have extreme diagnostic accuracy, and aspiration events are not always detected. Rigid bronchoscopy usually requires heavy intravenous sedation or general anaesthesia. The rigid bronchoscope has important advantages over the flexible bronchoscope. The larger diameter of the rigid bronchoscope facilitates the passage of various grasping devices, including a flexible bronchoscope. A better chance of quick, successful extraction and better capabilities of suctioning clotted blood and thick secretions are offered by the rigid bronchoscope. The paediatric flexible bronchoscope lacks a hollow working channel through which instruments may be inserted or blood and secretions may be aspirated.
Unlike the flexible bronchoscope, the patient can be ventilated through the rigid scope; therefore, ventilation of the patient can be maintained. Rigid bronchoscopy is the procedure of choice for removing foreign bodies in children and in most adults. Success rates for extracting foreign bodies are reportedly more than 98%. Large solid and semisolid objects are best managed emergently in the operating room with a rigid bronchoscope and appropriate grasping instruments.

Advances in endoscopy have suggested wider use of ERCP, which in the past was mostly restricted to the treatment of biliary fistulas and to patients with associated medical disease. Several series in literature demonstrate that ERCP with stenting for major bile duct injuries in the form of incomplete strictures has comparable efficacy with surgery and lower rates of morbidity and mortality, but few give long-term results.

Bile duct injuries (BDI) can occur after many abdominal operations, e.g. liver surgery, gastrectomy, common bile duct (CBD) exploration. However, the majority of postoperative bile duct injuries (POBDI) occur during open or laparoscopic cholecystectomy. Despite increasing experience with laparoscopy, a review of 1.6 million cholecystectomies demonstrated an unchanging 0.5% incidence of bile duct injury, reported after many days post operation, of abdominal pain, bile leak, jaundice or cholangitis. Only 30% of injuries are recognized at the time of operation.
Bile duct injuries, particularly strictures, have traditionally been managed by surgical reconstruction (Roux-en-Y hepaticojejunostomy). The reported occurrence of symptomatic anastomotic strictures after long-term follow-up of surgical reconstruction ranges from 9-25 %. Surgery is definitely associated with significant morbidity and mortality. Endoscopic treatment has demonstrated results comparable to those achieved with surgery, with lower morbidity and mortality.

Transient synovitis (TS) is the most common cause of acute hip pain in children aged 3-10 years. The disease causes arthralgia and arthritis secondary to a transient inflammation of the synovium of the hip. Biopsy reveals only nonspecific inflammation and hypertrophy of the synovial membrane. Ultrasonography demonstrates an effusion that causes bulging of the anterior joint capsule. Synovial fluid has increased proteoglycans.
Unilateral hip or groin pain is the most common symptom reported; however, some patients with transient synovitis (TS) may report medial thigh or knee pain. Transient synovitis has the highest incidence rate among causes of nontraumatic hip pain in children. Guidelines for chronic hip pain have been established.

Causes
No definitive cause of transient synovitis is known, although the following have been suggested:
– Patients with transient synovitis often have histories of trauma, which may be a cause or predisposing factor.
– One study found an increase in viral antibody titres in 67 of 80 patients with transient synovitis.
– Postvaccine or drug-mediated reactions and an allergic disposition have been cited as possible causes.

The following studies may be indicated in transient synovitis (TS):
– CBC count: The white blood cell (WBC) count may be slightly elevated.
– Erythrocyte sedimentation rate (ESR) may be slightly elevated. One study found that the combination of an ESR greater than 20 mm/h and/or a temperature greater than 37.5°C identified 97% of individuals with septic hip.

Answer: Inflammatory bowel disease

Inflammatory bowel disease (IBD) is an idiopathic disease caused by a dysregulated immune response to host intestinal microflora. The two major types of inflammatory bowel disease are ulcerative colitis (UC), which is limited to the colonic mucosa, and Crohn disease (CD), which can affect any segment of the gastrointestinal tract from the mouth to the anus, involves skip lesions, and is transmural. There is a genetic predisposition for IBD, and patients with this condition are more prone to the development of malignancy.

Generally, the manifestations of IBD depend on the area of the intestinal tract involved. The symptoms, however, are not specific for this disease. They are as follows:

Abdominal cramping

Irregular bowel habits, passage of mucus without blood or pus

Weight loss

Fever, sweats

Malaise, fatigue

Arthralgias

Growth retardation and delayed or failed sexual maturation in children

Extraintestinal manifestations (10-20%): Arthritis, uveitis, or liver disease

Grossly bloody stools, occasionally with tenesmus: Typical of UC, less common in CD

Perianal disease (e.g., fistulas, abscesses): Fifty percent of patients with CD

The World Gastroenterology Organization (WGO) indicates the following symptoms may be associated with inflammatory damage in the digestive tract [1] :

Diarrhoea: mucus or blood may be present in the stool; can occur at night; incontinence may occur

Constipation: this may be the primary symptom in ulcerative colitis, when the disease is limited to the rectum; obstipation may occur and may proceed to bowel obstruction

Bowel movement abnormalities: pain or rectal bleeding may be present, as well as severe urgency and tenesmus

Abdominal cramping and pain: commonly present in the right lower quadrant in Crohn disease; occur peri umbilically or in the left lower quadrant in moderate to severe ulcerative colitis

Nausea and vomiting: occurs more often in Crohn disease than in ulcerative colitis

The nocturnal diarrhoea and incontinence are important symptoms in diagnosis IBD.