La maladie de Weber-Christian: s'agit-il d'un état pré-leucémique?

La maladie de Weber-Christian ou panniculite idiopathique est une affection rare, caractérisée par une inflammation du tissu adipeux sous-cutané; il s'agit d'une entité pathologique non spécifique qui reste toujours un sujet de débat et dont l'évolution est imprévisible. Nous rapportons dans cet article le cas d'un nourrisson de sexe féminin de 9 mois, admise dans un tableau de sepsis précédé d'une symptomatologie respiratoire et suivi de l'apparition de nodosités sous cutanées érythémateuses, de petite taille, dures, sensibles, asymétriques et situées au niveau des bras et des membres inférieurs, la biopsie cutanée a montré une hypodermite lobulaire avec infiltration des polynucléaires neutrophiles. La maladie de Weber-Christian a été retenue après avoir éliminé les autres diagnostics différentiels. Notre patiente a été traitée par la prednisone avec une bonne évolution initiale. Durant le suivi et au cours de la dégression, le diagnostic d'une leucémie aigue lymphoblastique type B a été posé. Cette évolution atypique à notre connaissance n'a jamais été décrite dans la littérature. Nous allons discuter à travers ce cas les différentes situations similaires où un autre diagnostic a été fait après avoir pris en charge les malades comme ayant une panniculite lobulaire idiopathique, en concluant de la nécessité d'une enquête étiologique exhaustive et d'une surveillance prolongée afin de rechercher une éventuelle pathologie associée

Harmful Use of Veterinary Drugs: Blindness Following Closantel Poisoning in a 5-Year-Old Girl

Background: Closantel is a veterinary drug used as anthelmintic for ruminants while it is contraindicated for humans. This report describes a rare case of blindness, increased liver enzymes and coagulopathy following closantel poisoning. Case report: A 5-year-old girl was presented with acute blindness following closantel poisoning. She was given mistakenly a dose of 500 mg/day (25mg/kg/day) for 8 days. Clinical examination revealed a well-appearing child with bilateral mydriasis, loss of pupillary light reflex and absence of blinking to threat. Fundoscopic exam revealed bilateral pre-atrophic papilledema. Electroretinogram showed a highly significant decrease in retinal activity. Laboratory examinations revealed 52% increase in prothrombin time, prolongation of activated partial thromboplastin time to 1.3 times the normal and rise of aspartate aminotransferase to 120 IU/L. In addition, creatine kinase peaked at 904 IU/L. Moreover, normocytic normochromic anemia with hemoglobin at 10.7 mg/L and leukocytosis with lymphocytic predominance was noted. The patient received glucocorticoids, vitamin B12 and vitamin K and was discharged after correction of blood and coagulation parameters and normalization of liver enzymes. Partial recovery in visual acuity was found two months after ingestion of the last dose. Discussion:Closantel can cause significant spongiform change (intra-myelin vacuolation) in the white matter of the cerebrum and the cerebellum. It can also induce optic nerve damage as a result of Wallerian degeneration, fibrosis and atrophy. On the retina, closantel leads to papilledema, necrosis of the outer layers, and retinal detachment. It can also cause fatty change and hydropic degeneration in the liver and hepatocellular degeneration. Conclusion: Closantel is a toxic drug for humans causing blindness, hematologic and hepatic disorders. Public awareness should be raised regarding the risks of use of unapproved drugs for human

Homozygous mutation in the ADH6 gene, involved in alcohol metabolism, associated with a multisystem disorder, analogous to the fetal alcohol syndrome

Introduction: In humans, there is considerable individual variability in ethanol metabolism, and these differences have been partially attributed to genetic variability at the ADH locus at 4q22-23, where seven genes are found. They encode ADH enzymes with different kinetic and structural properties that represent the first step in a series of reactions involved in the metabolism and elimination of alcohol from the body. The objective of the study was to identify the potential genetic cause in a patient with congenital metabolic encephalopathy of unknown etiology, and having similarities to fetal alcohol syndrome. Case: We described a patient of Moroccan origin who suffered from a multisystem disorder compatible with congenital metabolic encephalopathy. The main clinical characteristics observed in the patient were psychomotor retardation, facial dysmorphism, microcephaly, and hematologic and endocrine abnormalities. Whole exome sequencing identified a homozygous missense mutation c.133G > A (p.Gly45Arg) in ADH6, a gene implicated in alcohol metabolism and previously not associated with human disease. The variant segregates well with the disease in the family, affects a highly conserved amino acid and was predicted to be damaging. Bioinformatics analysis revealed that the Gly45Arg substitution may affect the structure and function of the ADH6 protein. No other potential causal gene under an autosomal recessive inheritance model was found. Discussion: The patient presented with a congenital metabolic encephalopathy, and having similarities to fetal alcohol syndrome due to prenatal alcohol exposure. The only potential causing variant was identified in the ADH6, belonging to the Class V ADH which is a predominantly fetal alcohol dehydrogenase. In addition, he presented vacuolated lymphocytes, anemia and abnormalities of endocrine function, all have been reported to be related to an abnormal alcohol metabolism. Conclusion: We identified a novel variant in ADH6, involved in the metabolism of alcohol, in a patient with a hereditary alcohol metabolism encephalopathy syndrome