The presenting features and the surgical site provided in the clinical scenario are highly suggestive of ipsilateral hypoglossal nerve injury.

Note:
Three cranial nerves may be injured during submandibular gland excision.
– Marginal mandibular branch of the facial nerve
– Lingual nerve
– Hypoglossal nerve

Hypoglossal nerve damage may result in the paralysis of the ipsilateral aspect of the tongue. The nerve itself lies deep to the capsule surrounding the gland and should not be injured during an intracapsular dissection.
The lingual nerve is probably at higher risk of injury. However, the effects of lingual nerve injury are predominantly sensory rather than motor.
Thus, the most appropriate answer is the hypoglossal nerve.

Homonymous hemianopia (HH) is a visual field defect involving either two right or the two left halves of the visual field of both eye. It results from the damage of the visual pathway in its suprachiasmatic part. The causes of HH include stroke, brain tumours, head injuries, neurosurgical procedures, multiple sclerosis and miscellaneous conditions. HH result in a severe visual impairment and affect a variety of cognitive visual functions. Patients with HH frequently have difficulties with reading and scanning scenes in sufficiently rapid fashion to make sense of things as a whole. They stumble, fall or knock objects in their surroundings, since they cannot see them and they are frequent surprised that somebody or something suddenly appeared in their visual field. The prognosis of visual field deficit recovery is highly variable and depends on the cause and severity of brain nd optic pathway injury.

In case control studies, observational studies are made to compare two groups, individuals with a certain condition, to those without the condition, with all other factors being equal. In the situation presented by the question, the study was to determine whether a prior risk factor, a low birth weight, was associated with later developing adolescent hypertension, using a paired t-test to statistically determine whether there was indeed a significant association between the two conditions. Case control studies only help to draw associations between two groups and therefore cannot indicate causation. In this scenario we are also not given the p value to determine whether the association is statistically significant. Therefore there is not enough evidence to conclude whether or not birthweight affects the development of adolescent hypertension.

Adrenal insufficiency is a serious medical condition that leads to inadequate secretion of corticosteroids. The consequences of this deficiency are numerous electrolyte and acid-base imbalances, which include hyponatremia, hyperkalaemia, hypercalcemia, hypoglycaemia, metabolic alkalosis, and dehydration.

HLA-DR (3 and 4) have been associated with an increased risk for idiopathic diabetes mellitus.
Type 1 diabetes has a high heritability compared to type 2
Identical twins have a 30-50% risk if their twin has type 1 diabetes

Cot death also know as SIDS or Sudden Infant Death syndrome. Putting a baby to sleep on his back has been shown to reduce the risk of SIDS.

Arnold-Chiari malformation type II is one of the congenital hindbrain abnormalities that leads to a disruption of the relationship between different hindbrain structures. It is characterized by congenital hydrocephalus, herniation of cerebellar tonsils into the pinal canal with an enlarged 4th ventricle, spina bifida associated with myelomeningocele, and various levels of denervation atrophy of the muscles of the lower limb. The association of type II Arnold-Chiari with myelomeningocele carries importance from an etiological perspective, forming the basis of CSF escape theory.

Point mutations are the type of mutations in which only a single nucleotide of the DNA is either deleted, substituted or a new single nucleotide is inserted into the DNA, causing alterations in the original normal DNA sequencing. The examples of point mutations include hemochromatosis, sickle cell disease, and Tay-Sach’s disease.
Huntington’s disease is a trinucleotide repeat disorder.
Down’s syndrome is characterized by an extra copy of chromosome 21, while Klinefelter syndrome is marked by an extra X chromosome.
Fragile X syndrome is also a trinucleotide repeat disorder.

Erythema infectiosum is an acute viral illness caused by Parvovirus B19. It is usually a mild flu-like illness and produces a maculopapular rash, appearing initially on the cheeks and then spreading towards extremities. The rash usually spares the palms and soles and gives a slapped appearance to the cheeks. It can be described as having a fishnet appearance on the body.

The most overt phenotypic features of Klinefelter syndrome are caused by testosterone deficiency and, directly or indirectly, by unsuppressed follicle-stimulating and luteinizing hormones. Affected men typically have (in decreasing order of frequency): infertility, small testes, decreased facial hair, gynecomastia, decreased pubic hair, and a small penis. Because of their long legs, men with Klinefelter syndrome often are taller than predicted based on parental height. Body habitus may be feminized. In childhood, when there is a relative quiescence in the hormonal milieu, ascertainment of the syndrome may be difficult because the effects of hypogonadism (i.e., small external genitalia and firm testes) may be subtle or not present at all.

Intussusception causes abdominal pain leading to painful lower GI bleeding.

Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema.
However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.

Most children have self-limiting and minor bleeds. However, children with massive bleeds will need emergency care and stabilisation.

The various causes of lower GI bleeding in neonates include:
– Anal fissures
– Milk protein or soy allergy
– Intussusception
– Volvulus
– Coagulopathies including haemorrhagic disease of the new-born
– Arteriovenous malformations
– Necrotising enterocolitis
– Hirschsprung enterocolitis
– Meckel’s diverticulitis
– Drugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)

The various causes of lower GI bleeding in children aged between 1 month to 2 years include:
– Infection
– Anal fissures
– Intussusception
– Malrotation with volvulus
– Milk protein or soy allergy
– Polyp
– Meckel’s diverticulum
– Duplication cyst
– Foreign body
– AV malformation
– Colitis of immune deficiency
– Tumour
– Haematoma

The causes of lower GI bleeding in children older than 2 years include:
– Polyp
– Inflammatory bowel disease (IBD)
– Infectious diarrhoea (caused by Escherichia coli and Shigella)
– Intussusception
– Haemangiomas
– Arteriovenous malformations
– Vasculitis
– Tumour

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.

Breast milk jaundice is thought to be associated with one or more abnormalities in the maternal milk itself. Breast milk jaundice syndrome generally needs no therapy if serum bilirubin concentrations remain below 270 mmol/l in healthy full-term infants. When the serum bilirubin concentration is above 270 mmol/l and rising, temporary interruption of breastfeeding may be indicated.

Familial/inherited short stature is the most likely and commonest factor resulting in short stature among the children. Klinefelter syndrome is characterised by tall stature, widely spaces nipples and infertility. Other factors include congenital heart disease, maternal deprivation and diabetes mellitus but these are the rare causes.

The sympathetic chain lies posterior to the parietal pleura. During a thorascopic sympathectomy, this structure will have to be divided.
The intercostal vessels lie posteriorly. They may be damaged with troublesome bleeding but otherwise are best left alone as the deliberate division will not improve surgical access.

The sympathetic nervous system:
The cell bodies of the preganglionic efferent neurones lie in the lateral horn of the grey matter of the spinal cord in the thoracolumbar regions.
The preganglionic efferents leave the spinal cord at levels T1-L2. These pass to the sympathetic chain.
Lateral branches of the sympathetic chain connect it to every spinal nerve. These postganglionic nerves will pass to structures that receive sympathetic innervation at the periphery.
Sympathetic chains:
These lie on the vertebral column and run from the base of the skull to the coccyx.

Clinical correlation:
Interruption of the head and neck supply of the sympathetic nerves will result in an ipsilateral Horner’s syndrome.
For the treatment of hyperhidrosis, the sympathetic denervation can be achieved by removing the second and third thoracic ganglia with their rami.
Removal of T1 will cause a Horner’s syndrome and is therefore not performed.
In patients with vascular disease of the lower limbs, lumbar sympathectomy may be performed, either radiologically or (more rarely now) surgically. The ganglia of L2 and below are disrupted.
Care should be taken to preserve the L1 ganglion. If it is removed in male patients, ejaculation may be compromised.

Cushing reflex is a physiological nervous system response to increased intracranial pressure (ICP) that results in Cushing’s triad of increased blood pressure, irregular breathing, and bradycardia. It is usually seen in the terminal stages of acute head injury and may indicate imminent brain herniation. It can also be seen after the intravenous administration of epinephrine and similar drugs.

Based on the patient’s presentation, he’s probably suffering from
Leiner’s disease

Leiner’s disease is a severe generalised form of seborrhoeic dermatitis. It is also associated with recurrent diarrhoea, recurrent skin and internal infections, and failure to thrive.

Seborrhoeic dermatitis is a common and self-limiting condition in childhood. Lesions affect the scalp (cradle cap), and sometimes the ear, nose, and eyebrows. It is characterised by greasy yellow or yellow-brown scales.

There is an association with Malassezia, and the lesions are a reaction to this yeast, rather than caused by it.

It is most common in the 6-12 month age group. Simple brushing with a soft bristle brush, use of oil or emollient, and ketoconazole 2% shampoo are all treatment options.

Insertion sites and sensor sites should be rotated each time the infusion set or glucose sensor is changed. This keeps the tissue healthy and allows previous sites to completely heal before reusing them. Change infusion set every 2 to 3 days to help prevent infection.

Oligomenorrhoea and BMI of 40.4 is suggestive of Polycystic ovary syndrome (PCOS). To diagnose PCOS 2 out of following 3 criteria should be present : oligo/anovulation, hyperandrogenism, clinical (hirsutism or less commonly male pattern alopecia) or biochemical (raised FAI or free testosterone) and polycystic ovaries on ultrasound.

The external aspect of the tympanic membrane is lined by stratified squamous epithelium.

Clinical correlation: Following middle ear infections, this type of epithelium can migrate into the middle ear through a perforated tympanic membrane.

The ear is composed of three anatomically distinct regions:
– External ear:
Auricle is composed of elastic cartilage covered by skin. The lobule has no cartilage and contains fat and fibrous tissue. External auditory meatus is variable in length, measuring approximately 2.5cm long in fully grown children. Lateral third of the external auditory meatus is cartilaginous, and the medial two-thirds is bony. The greater auricular nerve innervates the region. The auriculotemporal branch of the trigeminal nerve supplies most of the external auditory meatus and the lateral surface of the auricle.
– Middle ear:
It is the space between the tympanic membrane and cochlea. The aditus leads to the mastoid air cells is the route through which middle ear infections may cause mastoiditis. Anteriorly the eustachian tube connects the middle ear to the nasopharynx. The tympanic membrane consists of an outer layer of stratified squamous epithelium, a middle layer of fibrous tissue and an inner layer of mucous membrane continuous with the middle ear. The chorda tympani nerve passes on the medial side of the pars flaccida. The glossopharyngeal nerve and pain innervate the middle ear. Thus, pain may radiate to the middle ear following tonsillectomy.
– Ossicles:
Malleus attaches to the tympanic membrane (the Umbo). Malleus articulates with the incus (synovial joint). Incus attaches to stapes (another synovial joint).
– Internal ear:
It consists of the cochlea, semicircular canals, and vestibule. Organ of Corti is the sense organ of hearing and is located on the inside of the cochlear duct on the basilar membrane. Vestibule accommodates the utricle and the saccule. These structures contain endolymph and are surrounded by perilymph within the vestibule. The semicircular canals lie at various angles to the petrous temporal bone. All share a common opening into the vestibule.

A lumbosacral lipoma is a form of congenital spinal lipoma and can be regarded as a cutaneous marker of dysraphism. It is not a skin condition but rather represents a defect in the process of neurulation and leads to a constellation of other abnormalities. The most common other systemic abnormalities associated with midline lumbosacral lipoma include complex anorectal and urological malformations. Other mentioned conditions are benign rashes or birthmarks.

Puberty is when a child’s body begins to develop and change as they become an adult.
The average age for girls to begin puberty is 11, while for boys the average age is 12.
It’s completely normal for puberty to begin at any point from the ages of 8 to 14. The process can take up to 4 years.

Cystic fibrosis is a genetic disease that interferes with the normal development of the child. It manifests with recurrent episodes of pneumonia accompanied by coughing, wheezing and dyspnoea. The appetite is normal but weight gain seems difficult. This condition also affects bowel habits with repeated gastrointestinal infections. The gold standard for the diagnosis is considered the sweat test which reveals abnormally high levels of Cl-.

The origins of the neural tube and the nape of the neck where nuchal translucency measurements are taken are from embryonic ectoderm.
The structural development of the head and neck occurs between the third and eighth weeks of gestation. The 5 pairs of branchial arches, corresponding to the primitive vertebrae gill bars, that form on either side of the pharyngeal foregut on day 22 are the embryologic basis of all the differentiated structures of the head and neck. Each arch consists of 3 layers: an outer covering of ectoderm, an inner covering of endoderm, and a middle core of mesenchyme. These arches are separated further into external, ectoderm-lined pharyngeal clefts and internal, endoderm-lined pharyngeal pouches

A population of ectodermal cells adjacent to the neural fold and not included in the overlying surface (somatic) ectoderm gives rise to the formation of the neural crest. These neuroectodermal crest cells are believed to migrate widely throughout the developing embryo in a relatively cell-free enriched extracellular matrix and differentiate into a wide array of cell and tissue types, influenced by the local environment. Most connective and skeletal tissues of the cranium and face ultimately come from the derivatives of neural crest cells.

Biliary atresia is a rare condition that causes obstructive jaundice. Without surgical treatment, e.g. Roux-en-Y, Kasai procedure or liver transplantation, death is likely by 2 years of age. The aetiology of biliary atresia is unknown. Theories suggest a multitude of etiological and causative factors that are both genetic and acquired.
The other conditions do not cause a conjugated hyperbilirubinemia.

The best answer is Henoch-Schonlein Purpura (HSP). This patient has a characteristic rash and the labs are consistent with this diagnosis.

Mature human breast milk is nutrient and enzyme rich, optimal for human infants. The average calorie requirement for a one month old infant is about 100kcal/kg/day. Lactose, the most abundant carbohydrate, is beneficial for the baby’s developing gastro intestinal system. The proteins in mature milk are mostly whey (as compared to a high proportion of casein in cows milk), which digests easily. Other proteins found in breast milk include immunoglobulin, lysozyme, lactoferrin and lactalbumin. In terms of micronutrients, while Vitamin K levels are low in breast milk, Vitamin A, C and E are found in higher concentrations than in cow’s milk.

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.

In a child with an age of 12 months – pincer grasp should be well developed.

It is essential to have a good grasp of important milestones. Most 12-month-old children will be mobile, by standing holding onto a support, lifting one foot and moving it sideways (‘cruising’ around the furniture).
They will demonstrate a neat pincer grasp, e.g. picking up a raisin or piece of paper between the tip of the index finger and the thumb. Words (or meaningful word-like utterances) are produced, but words are not usually chosen and put together deliberately by a child until after the second birthday (typically around the age of 30 months). Word combinations used earlier than this are likely to be an echo of a learnt phrase which may be understood by the child to be one single word even though they are a combination of more than one word (e.g. daddy, home). Building a tower of three cubes and following a one-step command such as ‘take off your socks’, is expected at 18 months.

Cranial nerve XI is also known as the accessory nerve. The accessory nerve innervates the trapezius muscle which retracts the scapula. The upper and lower fibres act together to also upwardly rotate it.