باختصار:

هذا عبارة عن مرض وراثي سببه خلل بأكثر من جين، أي واحد منها ممكن يؤدي للـ CMT. لهذا يقسمون المرض إلى هواي أنواع (أعتقد 7 أو أكثر، بس أغلبهن نادرات كلش)، كل نوع سببه خلل جيني مختلف عن البقية والـ clinical picture هم تكون مختلفة بدرجةٍ ما، بس عمومًا كلهم يشتركون بصفات محددة، ولهذا احنة نجمعهم كلهم ضمن مرض واحد هو الـ CMT.

المرض يؤدي إلى peripheral nerve weakness يكون مزيج من الـ sensory & motor. عادةً يبدي distally وبالطرف السفلي ويتقدم شوية شوية، لهذا البرزنتيشن الشائع هو foot drop وقوس القدم يكون مقوَّس أكثر من اللازم. بأغلب الأنواع، المرض ما رح يؤدي لشلل تام، بس ببعضها ممكن يزيد ويؤثر على التنفس.

The most common initial presentation of CMT is distal weakness and atrophy manifesting with foot drop and pes cavus (high-arched foot). Sensory symptoms are often present but tend to be less prominent in most CMT subtypes. Later in the course, foot deformities such as hammertoes and calf atrophy (leading to stork legs) ensue, along with hand weakness and atrophy.

Types of CMT
Before the advent of genetic testing, the disease was classified pathologically to:

• Type 1, or CMT1 (abnormal myelination) which is the most common type and accounts for about 70% of patients.

• Type 2, or CMT2 (dysfunctional axons) which accounts for about 12% to 30% of patients.

• Type 3, or CMT3, is an infantile-onset disease with mean age of presentation at 2 years.

• There are many other types but most of them are quite rare and have generally been found in few consanguineous families.

Now here's the curious thing:

PMP22 gene (Peripheral Myelin Protein) is critical for schwann cells to do their job and myelinate peripheral nerves.

CMT1A (the most common type) results from duplication of the gene and subsequent overexpression of PMP22 protein.

On the other hand, if there is insufficient expression of this same gene, it'll lead to a condition known as HNPP (Hereditary Neuropathy with liability to Pressure Palsy).

Immune Reconstitution Syndrome (IRS)

It's a condition seen while treating some patients who suffer from AIDS or immunosuppression. After initiating treatment, the immune system begins to recover, and then responds to a previously acquired opportunistic infection with an overwhelming inflammatory response that paradoxically makes the symptoms of infection worse.

There are two common IRS scenarios:
• The first is the "unmasking" of an occult opportunistic infection.
• The second is the "paradoxical" symptomatic relapse of a prior infection despite treatment success. In paradoxical IRS, microbiologic cultures are often sterile.

In either scenario, there is hypothesized reconstitution of antigen-specific T cell-mediated immunity with activation of the immune system against persisting antigen, whether present as intact organisms, dead organisms, or debris.

There are two other situations that you must remember in which IRS can occur: neutropenic patients & post-partum women.

Neutropenic patients during recovery can suffer from IRS as their neutrophil counts start to normalize. Post-partum women may also suffer from IRS since pregnancy leads to some degree of immunosuppression which fades away after giving birth.

The signs & symptoms (ssx) are basically your typical inflammatory ssx like fever and pain, but they also change according to the underlying infection.

The most important aspect of the diagnosis of Alzheimer's disease (AD) is the exclusion of treatable forms of dementia. While imaging of the brain may demonstrate diffuse atrophy with thinning of the cerebral gyri and enlargement of the sulci and ventricles in the advanced stages, it is more important to identify mass lesions, such as chronic subdural hematomas, which may account for the symptoms.

Hyperthyroidism increases stroke volume and myocardial contractility, while at the same time decreases peripheral vascular resistance (PVR). This leads to systolic hypertension and a wide pulse pressure.

That's why, in thyrotoxicosis, you're much more likely to see a wide pulse pressure than hypertension.

.

The serotonin syndrome may present with a clinical triad of changes in mental state, autonomic hyperactivity and neuromuscular abnormalities (tremor, hyperreflexia and clonus), but milder presentations with only one or two features are common. Life-threatening reactions with hyperthermia may occur.

Serotonin + niacin ( B3 )
اثنينهم يصنعن من نفس ال amino acid الي هو tryptophan
فمن اكو carcinoid tumour
راح يزداد ال serotonin بالمقابل راح يقل ال B3 لان ال tryptophan راح كله بتصنيع ال serotonin راح يصير B3 deficiency او ما يسمى pellagra
Clinical features
4 D
Dermatitis
Diarrhoea
Dementia
Death
Skin finding
Sun exposed areas
Bad sunburn
Blisters scaling

.

هلو شلونكم
اليوم اجانه كيس interesting و حبيت اشارككم بيه، بس هو بعده undiagnosed.

بيشنت ٢٧ سنة ميل، جاي يصير عنده
Recurrent attacks of syncope for 2 months.
BP reading throughout this time is 80/50 mmHg.
قبل هاي الشهرين هو ما قايس الضغط ماله، و ما يعرف اذا الضغط كان هجي او هذا الهبوط جديد.
ECG: normal

و المربض مخلصها يراجع staff و الي ينطونه فقط fluid، و الي ترفع ال BP لغاية 90.

خلال هاي الفترة كلها البيشنت صار عنده
Marked limitation of daily physical activity due to marked weakness and headache.

بعدها راجع اخصائي، سووله echo و Holter و اثنينهن كانن نورمل، فنصحوه يكثر سوائل.

المهم اجانه بـ syncope
و بدينا بالـ ddx مال السنكوب الي شارحينها بالقناة الف مرة
1. Cardiac: structural (like aortic stenosis or pre-ductal corctation of aorta) and electrical
كلش مهم بهذا العمر نستثني الـ Transient electrical causes مثل
Fascicular VT
Brugada syndrome
Catecholaminergic polymorphic VT
و غيرها و غيرها

2. Vascular:
A. aorta (aortic arch syndrome)
رير بس كلش مهم تتذكرها بالفيميل
B. Carotid: vasodilitation like vasovagal attack or anaphylactic shock or anti-hypertensive overdose
C. Vertebral artery: subclavian steal phenomenon

3. Hypotension/shock :
A. hypovolaemic shock
B. Septic shock
C. Obstructive shock: cardiac tamponade and pulmonary embolism
D. Endocrine shock: like adrenal hypo-function
E. Neurogenic shock

اخذنا هستري لمن طحنا صفح 😂😂
تبين هو قبل ٤ سنوات عنده pulmonary TB و ماخذله كورس كامل و صاير eradication.
فـ مباشرة فكرنا بـ
TB adrenalitis (non-autoimmune adrenal insuficiency)

هذا الحجي احنه وصلنا 1L من النورمل سلاين و ماكو ارتفاع بالضغط أبدا.
جبنا أمبولة وحدة من الـ hydrocortisone100 mg و انطيناها وريدي
قسنا الضغط ب ١٥ دقيقه
ارتفع من 80 لـ 105
فـ گلنا ع الاغلب تفكيرنا صحيح.

حولنا الببشنت إلى chest X ray
شو ما رجع النه 😂😂
الظاهر شاف روحه تحسّن
هجي كيس المفروض ما يروح من أدينا 😭😭😭.

تدري هذا البيشنت لو تنطيه anti TB، معناها راح تقتله حرفياً
و هاي عليكم انتم، كلولي ليش

#emergency
#infectious
#endocrine
@AASmedicalbot