Although not a typical reason for macrocephaly, children diagnosed with Fragile X syndrome often exhibit an enlarged head size.

Understanding Microcephaly: Causes and Definitions

Microcephaly is a condition characterized by a smaller than average head circumference, with measurements falling below the 2nd percentile. While some cases may be attributed to normal variation or familial traits, other causes include congenital infections, perinatal brain injury, fetal alcohol syndrome, and syndromes such as Patau and craniosynostosis.

In some cases, microcephaly may simply be a variation of normal development, with no underlying medical concerns. However, when it is caused by other factors, it can lead to developmental delays, intellectual disability, and other neurological issues.

It is important to note that microcephaly is not a disease in and of itself, but rather a symptom of an underlying condition. As such, it is crucial to identify and address the root cause of microcephaly in order to provide appropriate treatment and support for affected individuals.

Effects of Cortisol on the Body: Misconceptions and Clarifications

Cortisol, a hormone produced by the adrenal glands, plays a crucial role in regulating various bodily functions. However, there are some misconceptions about the effects of cortisol on the body. Here are some clarifications:

Hirsutism: Elevated cortisol levels can cause a condition called Cushingoid, which may result in hirsutism in women. This is characterized by excessive hair growth in areas such as the face, chest, and back.

Hypoglycemia: Contrary to popular belief, cortisol does not cause hypoglycemia. Instead, it increases gluconeogenesis (the production of glucose from non-carbohydrate sources) and reduces glucose uptake in peripheral tissues, resulting in hyperglycemia.

Enhanced glucose uptake: Cortisol actually has the opposite effect on glucose uptake. It reduces the uptake of glucose into peripheral tissues and accelerates gluconeogenesis.

Hypotension: Patients with adrenal hyperfunction (excessive cortisol production) often suffer from hypertension (high blood pressure), not hypotension (low blood pressure). This is because excessive mineralocorticoids are released, which can cause fluid retention and increase blood pressure.

Hypocalciuria: Cortisol can lead to osteopenia and osteoporosis by increasing bone breakdown. This may result in hypercalcemia (high levels of calcium in the blood), which can cause hypercalciuria (excessive calcium in the urine), not hypocalciuria.

The traditional presentation of vestibular schwannoma involves a blend of symptoms such as vertigo, hearing impairment, tinnitus, and a missing corneal reflex.

An acoustic neuroma is typically linked to one-sided tinnitus and hearing loss.

Tinnitus and deafness are not commonly associated with multiple sclerosis (MS), which is a condition characterized by demyelination.

Chronic otitis media is a persistent inflammation of the middle ear and mastoid cavity, which is marked by recurring otorrhoea and conductive hearing loss.

Understanding Vestibular Schwannoma (Acoustic Neuroma)

Vestibular schwannoma, also known as acoustic neuroma, is a type of brain tumor that accounts for 5% of intracranial tumors and 90% of cerebellopontine angle tumors. The condition is characterized by a combination of symptoms such as vertigo, hearing loss, tinnitus, and an absent corneal reflex. The affected cranial nerves can predict the features of the condition. For instance, cranial nerve VIII can cause vertigo, unilateral sensorineural hearing loss, and unilateral tinnitus. On the other hand, cranial nerve V can lead to an absent corneal reflex, while cranial nerve VII can cause facial palsy.

Bilateral vestibular schwannomas are often seen in neurofibromatosis type 2. The diagnosis of vestibular schwannoma is made through an MRI of the cerebellopontine angle, and audiometry is also important since only 5% of patients have a normal audiogram.

The management of vestibular schwannoma involves surgery, radiotherapy, or observation. The choice of treatment depends on the size and location of the tumor, the patient’s age and overall health, and the severity of symptoms. In conclusion, understanding vestibular schwannoma is crucial in managing the condition effectively.

Carbimazole is the preferred initial treatment for Graves’ disease, especially in elderly patients or those with underlying cardiovascular disease and significant thyrotoxicosis, as evidenced by this patient’s symptoms and peripheral signs of Graves’ disease such as ophthalmopathy. Radioiodine treatment is not recommended as first-line therapy in these cases due to the increased risk of Graves’ ophthalmopathy. Adrenalectomy is the primary treatment for pheochromocytoma, while ketoconazole is used to manage excess cortisol production in conditions like Cushing’s. Hydrocortisone is part of the treatment plan for Addison’s Disease.

Management of Graves’ Disease

Despite numerous attempts, there is no clear consensus on the best way to manage Graves’ disease. The available treatment options include anti-thyroid drugs (ATDs), radioiodine treatment, and surgery. In recent years, ATDs have become the most popular first-line therapy for Graves’ disease. This is particularly true for patients who have significant symptoms of thyrotoxicosis or those who are at a high risk of hyperthyroid complications, such as elderly patients or those with cardiovascular disease.

To control symptoms, propranolol is often used to block the adrenergic effects. NICE Clinical Knowledge Summaries recommend that patients with Graves’ disease be referred to secondary care for ongoing treatment. If a patient’s symptoms are not controlled with propranolol, carbimazole should be considered in primary care.

ATD therapy involves starting carbimazole at 40mg and gradually reducing it to maintain euthyroidism. This treatment is typically continued for 12-18 months. The major complication of carbimazole therapy is agranulocytosis. An alternative regime, known as block-and-replace, involves starting carbimazole at 40mg and adding thyroxine when the patient is euthyroid. This treatment typically lasts for 6-9 months. Patients following an ATD titration regime have been shown to suffer fewer side-effects than those on a block-and-replace regime.

Radioiodine treatment is often used in patients who relapse following ATD therapy or are resistant to primary ATD treatment. However, it is contraindicated in pregnancy (should be avoided for 4-6 months following treatment) and in patients under the age of 16. Thyroid eye disease is a relative contraindication, as it may worsen the condition. The proportion of patients who become hypothyroid depends on the dose given, but as a rule, the majority of patients will require thyroxine supplementation after 5 years.

If a person with Addison’s disease experiences vomiting, they should take IM hydrocortisone until the vomiting stops. This is especially important if the vomiting is caused by food poisoning from undercooked meat. IM hydrocortisone is a glucocorticoid steroid hormone that is used to manage Addison’s disease and prevent an Addisonian crisis. It is important to note that doubling the fludrocortisone dose or pausing hydrocortisone is not the correct approach in this situation. The patient requires extra hydrocortisone to prevent an Addisonian crisis, not extra fludrocortisone. While drinking plenty of fluids is generally good advice for someone who is vomiting, it is not sufficient for a person with Addison’s disease in this situation.

Addison’s disease is a condition that requires patients to undergo both glucocorticoid and mineralocorticoid replacement therapy. This treatment usually involves taking a combination of hydrocortisone and fludrocortisone. Hydrocortisone is typically given in 2 or 3 divided doses, with patients requiring 20-30 mg per day, mostly in the first half of the day. Patient education is crucial, and it is essential to emphasize the importance of not missing glucocorticoid doses. Additionally, patients should consider wearing MedicAlert bracelets and steroid cards, and they should be provided with hydrocortisone for injection with needles and syringes to treat an adrenal crisis.

During an intercurrent illness, it is crucial to manage the glucocorticoid dose properly. In simple terms, the glucocorticoid dose should be doubled, while the fludrocortisone dose should remain the same. The Addison’s Clinical Advisory Panel has produced guidelines that detail specific scenarios, and patients should refer to these guidelines for more information. It is essential to discuss how to adjust the glucocorticoid dose during an intercurrent illness with a healthcare professional. Proper management of Addison’s disease is crucial to ensure that patients can lead healthy and fulfilling lives.

Understanding Geographic Tongue: Symptoms, Causes, and Management

Geographic tongue is a common and benign condition that affects the tongue. It is characterized by irregular, smooth, red patches with a white border that resemble a map. While some individuals may experience pain or discomfort, others may not have any symptoms at all. The cause of geographic tongue is unknown, and there is currently no cure. However, symptomatic pain relief and avoidance of certain triggers may help manage the condition.

It is important to differentiate geographic tongue from other oral conditions such as oral candidiasis, oral leukoplakia, and vitamin deficiencies. Oral candidiasis can present with white/yellow plaques that can be easily removed, while oral leukoplakia presents with painless white plaques that cannot be easily scraped away and may be pre-malignant. Vitamin deficiencies such as B12 and C can also cause oral symptoms.

Overall, geographic tongue is a harmless condition that primarily affects females. While it may cause discomfort for some individuals, it does not pose any serious health risks. If you are experiencing symptoms of geographic tongue, it is recommended to seek advice from a healthcare professional for proper diagnosis and management.

Immediate admission for imaging to rule out a hemorrhage is necessary if a patient with suspected TIA is on warfarin, a DOAC, or has a bleeding disorder.

A transient ischaemic attack (TIA) is a brief period of neurological deficit caused by a vascular issue, lasting less than an hour. The original definition of a TIA was based on time, but it is now recognized that even short periods of ischaemia can result in pathological changes to the brain. Therefore, a new ’tissue-based’ definition is now used. The clinical features of a TIA are similar to those of a stroke, but the symptoms resolve within an hour. Possible features include unilateral weakness or sensory loss, aphasia or dysarthria, ataxia, vertigo, or loss of balance, visual problems, and sudden transient loss of vision in one eye (amaurosis fugax).

NICE recommends immediate antithrombotic therapy with aspirin 300 mg unless the patient has a bleeding disorder or is taking an anticoagulant. If the patient has had more than one TIA or has a suspected cardioembolic source or severe carotid stenosis, specialist review is necessary. Urgent assessment is required within 24 hours for patients who have had a suspected TIA in the last 7 days. Referral for specialist assessment is necessary as soon as possible within 7 days for patients who have had a suspected TIA more than a week previously. Neuroimaging and carotid imaging are recommended, and antithrombotic therapy is necessary. Carotid artery endarterectomy should only be considered if the carotid stenosis is greater than 70% according to ECST criteria or greater than 50% according to NASCET criteria.

Seborrhoeic dermatitis is the likely diagnosis for this man’s rash, especially given his medical history of HIV. The recommended first-line treatment for this condition is topical ketoconazole. While oral fluconazole may be useful for treating fungal infections and preventing them in HIV patients, it is not effective for seborrhoeic dermatitis. Oral prednisolone is only used for short periods to treat severe inflammatory skin diseases like atopic dermatitis and is not indicated for seborrhoeic dermatitis. Although topical steroids like hydrocortisone can be used to treat seborrhoeic dermatitis, they are not the preferred initial treatment.

Understanding Seborrhoeic Dermatitis in Adults

Seborrhoeic dermatitis is a chronic skin condition that affects around 2% of the general population. It is caused by an inflammatory reaction related to the overgrowth of a fungus called Malassezia furfur, which is a normal inhabitant of the skin. The condition is characterized by eczematous lesions that appear on the sebum-rich areas of the body, such as the scalp, periorbital, auricular, and nasolabial folds. It can also lead to the development of otitis externa and blepharitis.

Seborrhoeic dermatitis is often associated with other medical conditions, such as HIV and Parkinson’s disease. The management of the condition depends on the affected area. For scalp disease, over-the-counter preparations containing zinc pyrithione and tar are usually the first-line treatment. If these are not effective, ketoconazole is the preferred second-line agent. Selenium sulphide and topical corticosteroids may also be useful.

For the face and body, topical antifungals such as ketoconazole and topical steroids are often used. However, it is important to use steroids for short periods only to avoid side effects. Seborrhoeic dermatitis can be difficult to treat, and recurrences are common. Therefore, it is important to work closely with a healthcare provider to manage the condition effectively.

Spasticity in multiple sclerosis is caused by demyelination along the nerves that control movement, resulting in stiffness that can sometimes be helpful but can also become painful. Physiotherapy exercises are the simplest and most effective treatment, but first-line medications such as baclofen and gabapentin are also recommended. Gabapentin is an anticonvulsant that can be effective against muscle spasms, while diazepam is a muscle relaxant that may be more useful at night due to side effects at higher doses. Botulinum toxin and dantrolene sodium can be considered if conventional treatments prove ineffective, but are not used as first-line for spasticity. The NICE multiple sclerosis guideline recommends gabapentin as one of the first drugs to try in the treatment of spasms and spasticity.

Multiple sclerosis is a condition that cannot be cured, but its treatment aims to reduce the frequency and duration of relapses. In the case of an acute relapse, high-dose steroids may be administered for five days to shorten its length. However, it is important to note that steroids do not affect the degree of recovery. Disease-modifying drugs are used to reduce the risk of relapse in patients with MS. These drugs are typically indicated for patients with relapsing-remitting disease or secondary progressive disease who have had two relapses in the past two years and are able to walk a certain distance unaided. Natalizumab, ocrelizumab, fingolimod, beta-interferon, and glatiramer acetate are some of the drugs used to reduce the risk of relapse in MS.

Fatigue is a common problem in MS patients, and amantadine is recommended by NICE after excluding other potential causes such as anaemia, thyroid problems, or depression. Mindfulness training and CBT are other options for managing fatigue. Spasticity is another issue that can be addressed with first-line drugs such as baclofen and gabapentin, as well as physiotherapy. Cannabis and botox are currently being evaluated for their effectiveness in managing spasticity. Bladder dysfunction is also a common problem in MS patients, and anticholinergics may worsen symptoms in some patients. Ultrasound is recommended to assess bladder emptying, and intermittent self-catheterisation may be necessary if there is significant residual volume. Gabapentin is the first-line treatment for oscillopsia, which is a condition where visual fields appear to oscillate.

Understanding Myxoedema Coma

Myxoedema coma is a serious medical condition that can lead to confusion and hypothermia. It is a medical emergency that requires immediate treatment. The treatment for myxoedema coma includes IV thyroid replacement, IV fluid, IV corticosteroids (until the possibility of coexisting adrenal insufficiency has been excluded), electrolyte imbalance correction, and sometimes rewarming.

In simpler terms, myxoedema coma is a condition that can cause confusion and low body temperature. It is a medical emergency that requires urgent treatment. The treatment involves giving medications through an IV, correcting any imbalances in the body’s fluids and electrolytes, and sometimes warming the body.