Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients. We reviewed the record of 710 patients… (More)
We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic… (More)
Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive cerebral white-matter disorder in children. Megalencephalic leukoencephalopathy with subcortical cysts is caused by mutation in the megalencephalic leukoencephalopathy with subcortical cysts gene 1. The authors report a case of a 2-year-old Tunisian boy who had presented… (More)
converting enzyme insertion/deletion gene polymorphism in cystic fibrosis patients.
A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.
Metachromatic leukodystrophy is an autosomal recessive neurodegenerative lysosomal disease characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neuronal and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity but may be complicated in… (More)
The lack of specific symptoms and signs in patients with tuberculous meningitis makes early diagnosis difficult. In this report, we reviewed the clinical features and laboratory findings of 6 infants with central system nervous tuberculosis during a 10-year period. One of the patients had multifocal tuberculosis. The mean time to the diagnosis was 32 +/-… (More)
Primary spinal atypical teratoid/rhabdoid tumor is extremely rare. The authors present a case of atypical teratoid/rhabdoid tumor occurring in a 4-year-old girl. Magnetic resonance imaging The authors showed an intramedullary mass extending from the bulbomedullary junction to T1 with leptomeningeal dissemination. The patient died 2 weeks after diagnosis.