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.

Epidemiology, clinical features, and mortality rate of Wilson disease in Moroccan children: A pediatric case series.

BACKGROUND AND STUDY AIMS: Wilson's disease is an autosomal recessive disorder, that affects copper metabolism, leading to copper accumulation in the liver, nervous system, and cornea. Data are lacking on the epidemiology, the clinical and laboratory characteristics, treatment, and survival of Wilson's disease in Morocco. The aim of this study was to examine these features and the cause of death in a Moroccan pediatric population. PATIENTS AND METHODS: The study was carried out at the University Hospital Center of Marrakesh, Morocco; 46 children were diagnosed with Wilson's disease from 2008 to 2019. The diagnosis was based on low serum ceruloplasmin, increased urinary copper concentrations, the presence of Kayser-Fleischer rings, a family history of Wilson's disease, and a Leipzig score of ≥ 4. RESULTS: A total of 42 patients were referred to the center for hepatic or neurological manifestations; four patients were asymptomatic. Consanguineous marriage was found in 67.4% of the cases. The mean duration of illness (42 patients) was 4.9 ± 3.9 years. Kayser-Fleischer rings were found in 60.9% of 46 patients. Of the 42 symptomatic patients: 28 of 30 (93.3%) patients had low serum ceruloplasmin (<0.2 g/L), and 24 h urinary copper >100 µg/day was found in 34 of 35 (97.1%) cases. The treatment was established with D-penicillamine for 43 of the 46 patients, with zinc acetate for one patient and with zinc sulfate in for one patient, while one patient was not treated. D-penicillamine was discontinued in nine patients because of adverse effects such as thrombocytopenia, neurological deterioration, pancytopenia, severe vomiting and severe hypersensitivity. In total 28 patients were clinically and biologically stabilized, two patients experienced vision loss, and 16 patients died (38%). The main cause of death was diagnosis made at an advanced stage of disease and stopping treatment. CONCLUSION: Wilson's disease is a rare condition associated with treatement efficacy, but late diagnosis and stopping treatment can lead to a high mortality rate.

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.

Hepatitis A Virus Infection Associated with Cryoglobulinemic Vasculitis.

Atypical symptoms, especially immune complex disorders, are uncommonly reported with hepatitis A virus (HAV) infection. We report an 8-year-old child who contracted HAV infection complicated by cryoglobulinemic vasculitis, and responded well to oral steroids. HAV infection may be considered in the etiology of cryoglobulinemia in children.

Systemic Lupus Erythematosus-Related Pancreatitis in Children: Severe and Lethal Form.

Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease of unknown cause, characterized by multisystemic involvement. Its occurrence in children is rare, and acute pancreatitis is exceptional in this matter. Its diagnosis is clinical, biological, and radiological. Its treatment is based on corticosteroid therapy, and its progress is generally lethal. We report two cases of acute pancreatitis in the course of SLE, highlighting its life-threatening severity despite well-conducted treatment. Case 1: 14-year-old patient, admitted to the pediatric ICU for altered state of consciousness. This child, an outpatient since 2009 for chronic arthralgia, was hospitalized five days previously in the pediatric ward for suspicion of severe SLE, before presenting abdominal pain and vomiting. Hyperlipasemia was found, and an abdominal CT scan confirmed the diagnosis of acute pancreatitis. The patient was put under immunosuppressive therapy composed of high-dosage of corticosteroid and cyclophosphamide cures. She died 20 days after her hospitalization by severe lupus flare with multiorgan failure. Case 2: 14-year-old child, admitted to the Pediatric ward for prolonged fever associated with polyarthralgia (nondeforming, immovable, and additive) that had been progressing since 6 months with altered general state; his symptoms got worst 15 days before his hospitalization by having behavioral disorders and epigastralgia with vomiting. Pancreatitis was strongly suspected in the absence of improvement on symptomatic treatment and confirmed by hyperlipasemia 6 times the normal value and a swollen pancreas on the abdominal CT scan. The child was treated with Solumedrol and cyclophosphamide without improvement and then died after one month of hospitalization by a septic shock.