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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)
BACKGROUND Cockayne syndrome is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. Classically, the onset of Cockayne syndrome starts in the second year of life. The failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful diagnostic test and the(More)
BACKGROUND Febrile seizure is a frequent cause of hospitalization. Its management remains problematic. According to the American Academy of Pediatrics, lumbar puncture, which is not devoid of risk, is strongly recommended in infants under 1 year. AIM to define the utility of lumbar puncture in the management of febrile seizures in infants under 12 months(More)
BACKGROUND Congenital candidiasis is rare occurring in most cases in premature and low birth weight new born. It can produce a spectrum of disease ranging from a diffuse skin eruption to a severe systemic disease with or without skin involvement. Amphotericin B is the first-line agent for the treatment of systemic disease. AIM To describe a congenital(More)
BACKGROUND Triple X is a sex chromosomal abnormality that involves the presence of three sex chromosomes resulting in 47, XXX karyotype. Most patients suffering from this syndrome are usually mentally normal or subnormal with no gross malformation. AIM to report an unusual association between Triple X and Marfan disease in a girl. CASE REPORT A case of(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.
Rabies remains a serious public health problem in many developing countries. The diagnosis is easy when a non-immunised patient presents with hydrophobia and hypersalivation after a bite by a known rabid animal but more difficult when a patient presents atypical symptoms after having received rabies postexposure prophylaxis. Rabies postexposure prophylaxis(More)
BACKGROUND Bronchiolitis is a public health problem in the word and in Tunisia. Nebulized hypertonic saline seems to have some benefits in bronchiolitis. The aim of this study is to evaluate the efficacy of nebulized 5% hypertonic saline alone or mixed with epinephrine in bronchiolitis as measured by improvement in clinical score, oxygen saturation or(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)