L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.

The correlation between the frequent intake of dietary migraine triggers and increased clinical features of migraine (analytical cross-sectional study from Egypt).

Despite the high prevalence of primary headaches, the role of food in modifying clinical characteristics among migraine patients is often overlooked. The aim is to detect the correlation between adopting unhealthy dietary habits and migraine severity and identify foods that have a greater chance of triggering specific subtypes of migraine. The present study was a cross-sectional analytical study that was conducted at Kasralainy Hospital, Cairo University, headache clinic at Alexandria University Hospital, and Al-Azhar University Hospitals from January to June 2020. We included 124 patients fulfilling the ICHD-3 criteria for migraine. A full clinical profile for migraine headaches was reported using a headache sheet applied to the Al-Azhar University headache unit. A nutritionist obtained data collected about dietary habits using many reliable scales and questionnaires such as food frequently sheets questionnaire. Logistic regression and Pearson correlation coefficients have been used to identify foods that are more likely to be associated with increased clinical features of migraine. Our participants reported that the fried meat, fried chicken, processed meats, fava beans, falafel, aged cheese "Pottery salted cheese" and "Rummy cheese", salted-full fatty cheese "Damietta cheese", citrus fruits, tea, coffee, soft drinks, nuts, pickles, chocolate, canned foods, sauces, ice cream, smoked herring, in addition to the stored food in the refrigerator for many days were significantly associated with the diagnosis of chronic migraine CM compared to episodic migraine (EM). Margarine, pickles, and smoked herring were significantly associated with the diagnosis of migraine with aura (MA) compared to migraine without aura (MO). Adopting unhealthy eating habits was a more prevalent dietary consumption pattern among people with chronic migraines compared to those with episodic migraine.

HIV-Associated Progressive Multifocal Leukoencephalopathy: A Case Study.

Progressive multifocal leukoencephalopathy (PML) is a rare, life-threatening, infectious, lytic, demyelinating disease that results from reactivation of the virulent JC polyomavirus (JCV) "major opportunistic infection" in immunosuppressed individuals. We reported a case of a young girl who presented with new onset focal neurological defect, evaluated, and laboratory and radiological findings in the context of a clinical setting confirmed HIV-related-PML infection. However, remyelination does not occur, the patients may develop complications in the long term including cognitive impairment, sensory deficits, motor deficits, and disturbances in balance. We must increase our knowledge about HIV- related PML in any patient with reduced immunity and who presented with new onset neurological defect.

Acute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report.

Porphyria is a challenging metabolic disease due to its heterogeneous presentation symptoms and its difficult diagnosis. Many affected individuals can complain of recurrent neuro-visceral attacks per year, some of which may be persistent and life-threatening, which is confusing if there is no established diagnosis. Although the motor manifestations, autonomic changes and seizure are highly suggestive, the diagnosis is often overlooked and needs confirmatory genetic testing. To the best of our knowledge, the acute intermittent porphyria (AIP) reported in this case, involving severe electrolyte disturbances and rapid severe weakness is a challenging neuro-metabolic case and is extremely rare worldwide. Here, we reported a case of AIP in a young girl who presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache which had started 10 days ago. It seems that the diagnosis of porphyria should be considered particularly in those patients with abdominal complaints associated with electrolyte disturbances, seizures, and severe progressive neuropathy.