Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy.

Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine. These pathologies represent a significant burden among Moroccan population, for which an easy access to enzymatic assays and genetic tests is not guaranteed. Parallel analytical methods thus have to be developed for preliminary screening. In this study, 107 patients were addressed to the metabolic platform of the Marrakesh Faculty of Medicine for diagnosis confirmation. Thin-Layer Chromatography was used as a first step to perform chemical profiling of the patients' urinary lipids, allowing 36% of the patients to be efficiently oriented towards the adequate enzymatic assay. UPLC-MS/MS analyses of urinary sulfatides excreted in urines patient had been used to control the reliability of TLC analysis and to obtain more accurate information related to the sulfatides isoforms. This analytical process combining TLC with UPLC-MS/MS has enabled rapid and appropriate patient management in a reduced time and with reduced resources.

HAV Infection Associated with Hemophagocytic Syndrome.

Hemophagocytic syndrome is a rare disease that can cause severe illness and death. This condition is caused by the presence of antibodies against the hepatitis A virus. A positive anti-IGM antibody was identified in our 7-year-old patient with severe hepatitis A. A week after the hepatitis A was diagnosed, the patient experienced pancytopenia, which was worsened by prolonged fever. He was then diagnosed with macrophage activation syndrome. The treatment with steroids improved the clinical and biological evolution of the condition.

Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1.

Turner's syndrome (TS) is a sex chromosome disorder due to loss of either all or part of the X chromosome, in some or all the cells of the body. Neurofibromatosis type 1 (NF-1) is a multisystemic genetic disorder that is only rarely observed in association with Turner syndrome. Only six cases of Turner syndrome associated with NF-1 have been reported in the literature. In this study, we report the first case with TS and NF-1 in a Moroccan child. Case Report. A 16-year-old female was born of a nonconsanguineous marriage. In her family history, her mother had multiple café-au-lait spots with Lisch nodules on ophthalmologic examination. She was diagnosed with TS (karyotype: 45, X) due to short stature and characteristic features. The diagnosis of NF-1 was made according to the presence of four diagnostic criteria of the National Institute of Health Consensus Development Conference. Conclusion. Coexistence of NF-1 with TS is rare. We consider that this may be the seventh case report of TS associated with NF-1.

Neonatal Cholestasis: A Rare and Unusual Presentation of Pituitary Stalk Interruption Syndrome.

Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized. Our case report describes a case of PSIS in a Moroccan infant revealed by isolated neonatal cholestasis, which is an unusual presentation in children. Case report. A 40-day-old girl was admitted to our department for progressive cholestatic jaundice appeared on the third day of life. She was born from a non-consanguineous marriage, and her prenatal and perinatal history went without incident. Physical examination showed icteric skin and sclera, without hepatomegaly. Analysis of pituitary hormones revealed panhypopituitarism. On brain magnetic resonance imaging (MRI), the pituitary stalk was absent, the posterior pituitary was ectopic, and the anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. The treatment consisted of hormone replacement with rapid improvement of her clinical condition. Conclusion. Panhypopituitarism, a consequence of PSIS, is a rare cause of neonatal cholestasis. However, pediatricians should keep this syndrome in mind for patients who present with neonatal cholestasis.

A New Presentation: Aphallia, Vesicoureteral Reflux, Rectovesical Fistula, and Adrenal Insufficiency.

Aphallia or penile agenesis is a rare congenital malformation with an estimated incidence rate of 1 in 10 to 30 million births. More than half of aphallia cases have associated anomalies including caudal axis, cardiovascular, genitourinary, and gastrointestinal anomalies. The penile agenesis associated with adrenal insufficiency has never been reported in an infant. We report a rare case of a newborn that was diagnosed as a case of aphallia with vesicorectal fistula and vesicoureteral reflux, complicated by adrenal insufficiency with salt-wasting crisis.

A case of pemphigus herpetiformis in a 12-year-old male.

Pemphigus herpetiformis (PH) is one of the less common forms of pemphigus. PH in children is unreported. We describe a case of a child who developed PH. Observation. A 12-year-old boy was seen at our department with erosive plaques, vesicles, and crusted cutaneous lesions associated with severe itching persisting for six months. Histologic examination showed an intraepidermal bulla containing rare acantholytic epidermal cells with eosinophilic spongiosis. Direct immunofluorescence demonstrated intercellular Ig G and C3 deposit. The serum titer of antibodies against intercellular epidermal was 1/200 UI/l. Diagnosis of PH was made, and treatment with Dapsone 2 mg/kg per day resulted in total clinical remission. However, two months later, new vesicles reappeared and treatment was begun with prednisone at a dose of 2 mg/kg daily. There was a very good response. Discussion. Childhood pemphigus herpetiformis is a rare disease, often initially misdiagnosed. It must not be forgotten that the disease is a possible cause of erosive mucocutaneous disease in children.

[Epidemiology of urinary tract infection in children in Marrakech]. / Epidémiologie de l'infection urinaire chez l'enfant à Marrakech.

By its incidence, the polymorphism of its clinical presentation, its potential gravity, the difficulty of realization of urine culture in children, the frequency of the subjacent urologic abnormalities, the urinary tract infection (UTI) is an important problem in paediatrics. This work relates to a retrospective study carrying 121 episodes of UTI in 111 children taken care in paediatrics services of the Teaching Hospital Mohammed VI in Marrakech between March 2005 and March 2009. The age of our children varied between one month and 15 years with an average of 31 months, girls were more touched than boys with a sex ratio at 1.9. E. coli was the most common causative agent in our study (72 %), followed by Klebsiella in 14 % and Proteus in 5.8 % of cases. The study of antimicrobial susceptibility showed that the majority of the isolates were resistant to amoxicilline in 2/3 of cases. Third generation cephalosporins and aminosides kept their effectiveness on the majority of isolates (E. coli was susceptible to 3GC in 91.2 % and to gentamycin in 88 %). E. coli was sensible to the TSU in 54.4 % of cases.

[Curable dementia revealing late congenital syphilis]. / Démence curable révélant une syphilis congénitale tardive.

UNLABELLED: Late congenital syphilis is a rare disease and its neurological expression is exceptional. We report a case revealed by a curable dementia. CASE REPORT: This 17-year-old patient presented for one year progressive dementia, frontal syndrome and extra pyramidal syndrome. The cerebral CT scan showed a diffuse cortical and subcortical atrophy. Blood and CSF positive antibodies confirmed the diagnosis of late congenital meningoencephalitis due to syphilis. The outcome after 13 months follow-up was favourable with penicillin therapy. COMMENTS: Late congenital syphilis is a rare disease, that may be exceptionally revealed by a curable dementia. Evolution may be favourable with early penicillin therapy.