An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

BACKGROUND: Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. METHODS: All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. RESULTS: Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. CONCLUSION: A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.

[Severe ethylene glycol intoxication by skin absorption]. / Intoxication grave à l'éthylène glycol par voie transcutanée.

UNLABELLED: Ethylene glycol is present predominantly in antifreeze,and in industrial solvents. Accidental ingestion of ethylene glycol is relatively rare, but may be potentially lethal. It results in a depression of the central nervous system, a severe metabolic acidosis and an acute renal failure by tubular precipitation of calcium oxalate crystals. We report a case of ethylene glycol poisoning by through skin absorption. OBSERVATION: A 38-year-old man, working in a cement factory, with a history of cutaneous psoriasis for 10 years, was admitted to our hospital due to acute nausea, vomiting and diffuse abdominal pain, followed by generalized convulsive status epilepticus and worsening of his mental status. Biologic analysis showed severe metabolic acidosis and acute renal failure which required hemodialysis. On renal biopsy, there were intratubular crystals of calcium oxalate. Cerebral magnetic resonance imaging showed posterior encephalitis. Evolution was marked by normalization of renal function at two weeks and improvement of the mental status. Retrospectively, the patient's history-taking revealed that he manipulated ethylene glycol without gloves. CONCLUSION: Cutaneous contact with ethylene glycol may cause poisoning in presence of skin lesions. The triad neurologic involvement, renal failure due to oxalate crystals deposits and metabolic acidosis leads to the diagnosis of ethylene glycol intoxication. In the case of acute renal failure with oliguria, haemodialysis is the treatment of choice. It allows the removal of the toxic substance and its metabolites with correction of the metabolic acidosis. The precocity of the treatment may improve the prognosis.

Multiple hydatid cysts of the neck, the nasopharynx and the skull base revealing cervical vertebral hydatid disease.

Hydatid disease is caused by the parasitic tapeworm Echinococcus. This parasite in larval stage can thrive in many parts of the body, most commonly in the liver and the lung. Hydatid disease in the head and neck is uncommon and hydatid cyst presents rarely as a cervical mass. Cervical vertebral echinococcosis is rare. We report a 14-year-old girl with multiple cervical spine hydatid cysts of the C1-C2 vertebrae that spread into the surrounding paravertebral tissues and involve the nasopharynx and the skull base particularly the left jugular foramen. This process has caused a progressive swelling in the left side of the neck located in the retrostyloid compartment of the parapharyngeal space with paralysis of cranial nerves (VI, IX, X, XI, XII). The diagnosis was made based on the image obtained from CT and MRI examinations. Characteristics of this rare disease, diagnosis and treatment difficulty are discussed.