Hyperintense thalami and basal ganglia. These findings are not very specific for WE, but they were found in this same patient.

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هاي جانت مريضة حامل بالثلث الثاني وعدها hyperemesis gravidarum. البرزنتيشن مالتها جان focal seizures وتصير وراها generalized. هالشي كلش uncommon بالنسبة للـ WE

Charcot-Marie-Tooth disease (CMT)

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It's the most common inherited neurological disorder. It's can be caused by many different genetic mutations and affects peripheral nerves either by disrupting axons or the myelin sheath

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.