Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

BACKGROUND: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. METHODS: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. RESULTS: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. CONCLUSIONS: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.

Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: First case reported in Saudi Arabia.

CODAS syndrome (cerebral, ocular, dental, auricular, skeletal anomalies) is a rare autosomal recessive inherited multisystemic disease that carries an incidence rate of less than 1 in 1,000,000 children worldwide. It has an infancy, neonatal age of onset, characterized by deformities of the central nervous system, eyes, ears, teeth, and skeleton. A 1-year-old female of non-consanguineous parents, first time presented to our pediatrics clinic on November 6, 2021 when she was 4 months of age with developmental delay, as the patient could not support her head and made no eye contact on examination. Microcephaly was observed. She had a positive family history; her sister died at the age of 3 days with microcephaly and diaphragmatic hernia. We recommend that a wider range of centers to get encouraged to report cases of CODAS they might encounter due to the lack of sufficient amounts if solid literature on the topic. To our knowledge, this is the first case to be reported in the literature from Saudi Arabia.

A case report of interventricular hemorrhage in William-Beuren syndrome.

Background: Williams syndrome (WS) (also as known Williams-Beuren Syndrome) is a neurodevelopmental disorder caused by deletion of chromosomes 7q11.23. WS phenotype is very variable but usually it is associated with a distinctive pattern of cognitive abilities. Case presentation: 9-year-old female patient known case of developmental delay and precocious puberty presented to the emergency department with altered level of consciousness, elevated blood pressure of 230/160 with a provisional diagnosis of hypertensive encephalopathy. Conclusions: In our patient, the strongest indications for establishing the diagnosis included the classic elfin face and multisystemic involvement. Later on genetic analysis confirmed our diagnosis.