[Wolcott-Rallisson syndrome: diabetes mellitus and epiphyseal dysplasia]

Wolcott-Rallison syndrome [SWR] is a rare autosomal recessive disorder. This syndrome is characterized by early infancy insulin-dependent diabetes associated with spondylo-epiphyseal dysplasia, severe growth retardation and other frequent multisystemic manifestations: facial dysmorphia, hepatic and renal dysfunction, mental retardation, cardiovascular abnormalities and neutropenia. Death occurs early in the first ten years of life. The syndrome results from mutations in the gene encoding the eukaryotic translation initiation factor 2-a kinase 3 [EIF2AK3]. We report a family case of WRS in a Moroccan girl who was born from healthy consanguineous parents. Diabetes began at the age of 2 months. Later, she developed spondylo-epiphyseal dysplasia, hepatic dysfunction and she died at 3 year-old of a renal failure. A same case was identified in the siblings with similar characteristics. Through this case, we have to pay attention to the existence of neonatal diabetes which etiopathogeny is different from the child classical auto-immune type I diabetes

Mediterranean spotted fever revealed by multivisceral damage

We report a case of Mediterranean spotted fever revealed in a 3 year-old girl by severe neurological symptoms as convulsions, feverish coma and generalized hypotonia, associated to acute diarrhoea and digestive haemorrhage. Contact with dogs, wrist bedsore and positive rickettsiosis seroconversion allowed us to have the diagnosis. Encephalic MRI showed an ischemic vasculocerebral accident that raises the problem of rickettsiosis lesions pathogenesis

[Diagnostic difficulties of the atypical onset of Kawasaki disease: a 8 cases report]

Kawasaki's disease is a multisystemic vasculitis that most often affects young children. It is known for inducing adverse cardiac effects, especially the development of coronary aneurysms that could lead to death. The diagnosis is based only on clinical criteria, and needs the presence of typical fever and 4 out of the 5 other clinical criteria. The aim of this study is to highlight the occurrence of atypical onset of the disease that should in no way delay the diagnosis and the start of treatment. We reviewed 13 cases of Kawasaki disease treated at Pediatrics 3 in Children Hospital of Casablanca from 1996 to 2002: 8 had atypical Kawasaki disease with particular clinical onset or biological parameters and/or evolution, that initially led to other diagnosis. The clinical onset manifestations included one case of uveitis with blindness, another case of febrile purpura, the third case with pyretic hepatomegaly and liver cytolysis. A diffuse cervical lymph node enlargement was described in one case and led to the diagnosis of haemopathy. Two patients had neurological involvement, in one case with ataxia in the other with headache and strabismus. A 12 year-old child had polyarthritis and the diagnosis was made retrospectively and the evolution was sub acute. The last patient had respiratory manifestations with coughing, fever and radiological atelectasia. The risk of coronary aneurysms directs to suspect early Kawasaki disease in very young children with persistent fever and inflammatory patterns, even in the absence of all typical manifestations

atypical presentation of juvenile dermatomyositis: about one case

Juvenile dermatomyositis is a multisystem immune-mediated disease that affects the skin, muscles and gastro-intestinal tract. Elevation of serum muscle enzymes, electromyogram findings and muscle biopsy are helpful to confirm the diagnosis of dermatomyositis. The goal of this article is to describe an unusual presentation of juvenile dermatomyositis, associated to celiac disease, with atypical exploration and unexpected evolution to extensive calcinosis. Nora, 14 years old, is followed since the age of 10 for celiac disease successfully treated with a gluten-free diet. At 11 years she is hospitalized because of arthralgia and myalgia. The physical examination shows erythematous facial rash, Gottron papules in metacarpo-phalangian articulations, and desquamatives lesions of elbows. She presents ankles, knees and wrists arthritis with lumbalgia. The diagnosis of dermatomyositis is suspected. Laboratory findings show a moderate inflammation, non auto-immune signs, increased level of muscular enzymes, without any abnormalities neither in the electromyogram nor in the biopsy. The diagnosis of dermatomyositis is confirmed. The patient is treated with high doses of oral corticotherapy, articular kinesi-therapy and gluten-free diet. The outcome was satisfactory, but an extensive calcinosis appeared after 3 years. Dermatomyositis and celiac disease is a rare association; only a few cases have been reported. They have common auto-immune condition that can explain this association. Regarding the nonspecific results of the electromyogram and the muscular biopsy, it can be due to the choice of an area which is not involved. The calcinosis is unusual in this type of monocyclic and stabilized involvement. It can appear due to the poor efficacy of oral corticoids prescribed in the context of malabsorption