In-depth exploration of differences of sex development: 5-year experience in a tertiary center.

Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.

Aims: The study aims to highlight the clinical spectrum, etiological diagnosis, and management of patients with DSD.

Rapunzel syndrome complicated with pancreatitis, intussusception and intestinal perforation.

We report a case of a 4-year-old girl with limited financial resources, a background history marked by chronic abdominal discomfort and a positive stool antigen test. The child presented with pallor, striking epigastric pain, nausea and vomiting. Blood tests reported high serum lipase levels.

Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients.

[Macrophage activation syndrome revealing subcutaneous T-cell lymphoma in a 16-year old adolescent].

Macrophage activation syndrome (MAS) is a multisystemic disorder resulting from an over-activation of the immune system leading to a more or less diffuse macrophagic infiltration into the tussues. Clinical signs including fever, hepatosplenomegaly, adenopathy are associated with abnormal values in laboratory test results (bi or pancytopenia, hepatic cytolysis, elevated LDH levels, coagulopathy) and hemophagocytosis. In children, it can be primary or secondary to several disorders.

[Osteomyelitis of the mandible and dysosteosclerosis].

Dysosteosclerosis is a rare genetic disorder with a poor prognosis. It is an osteochondrodysplasia similar to osteopetrosis but it is typically characterized by platyspondyly and expanded metaphyses. It shows complications such as compression of cranial nerves, especially the optic nerve, hematologic complications, fractures following mild injury, abnormal dentition, neurological and psychological deterioration, in addition to osteomyelitis of the mandible.

Cutis Laxa syndrome: a case report.

Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive patterns have been described in the inherited forms. Acquired forms of this disease have been associated with a previous inflammatory skin disorder (urticaria…).

Screening for childhood lead poisoning in the industrial region of Fez, Morocco.

The study objectives were to estimate lead poisoning prevalence among children living next to an industrial area, to compare it to that in a control population, and to establish clinical and biological follow-up of the poisoned children. This is a descriptive cross-sectional study including 150 children (exposed and unexposed) performed between January 2012 and April 2013. It was meant to determine blood lead levels (BLLs) in children considered to be an exposed population (EP N 90), living in the industrial area Ain Nokb Fez compared with BLLs of children of other areas belonging to the same city supposed to be unexposed [UP (N = 60)].

Drug Reaction with Eosinophilia and Systemic Symptom (DRESS) induced by carbamazepine: a case report and literature review.

Drug-induced hypersensitivity or Drug Reaction with Eosinophilia and Systemic Symptom (DRESS) is a severe adverse drug-induced reaction. Diagnosing DRESS is challenging due to the diversity of cutaneous eruption and organs involved. Most of the aromatic anticonvulsants, such as phenytoin, phenobarbital, and carbamazepine, can induce DRESS.

Hodgkin's Lymphoma Revealed by Hemophagocytic Lymphohistiocytosis in a Child.

Hemophagocytic lymphohistiocytosis (HLH) is a severe life-threatening disorder, responsible for extensive phagocytosis of hematopoietic cells and causing a multisystem organ failure. If lymphomas are common causes of HLH, the association with Hodgkin's lymphoma is rarely described in children. We report a case of a 9-year-old boy presenting with HLH as an initial manifestation of Hodgkin's lymphoma.

[Seizures revealing phosphocalcic metabolism abnormalities].

Hypocalcemia due to hypoparathyroidism produces a broad spectrum of clinical manifestations, but overt symptoms may be sparse. One unusual presentation is onset or aggravation of epilepsy in adolescence revealing hypoparathyroidism. This situation can lead to delayed diagnosis, with inefficacity of the antiepileptic drugs.

[Jaundice and urinary tract infection in neonates: simple coincidence or real consequence?].

Unlabelled: In neonates, jaundice may be one of the initial symptoms related to urinary tract infection (UTI). The routine testing of the urine in jaundiced neonates is controversial. This study aimed to evaluate the related factors of neonatal infants with the initial presentation of hyperbilirubinemia and the final diagnosis of UTI by evaluating data that help diagnose UTI early in apparently healthy newborns with jaundice.

Severe hypernatremic dehydration associated with cerebral venous and aortic thrombosis in the neonatal period.

Severe neonatal hypernatremia is an important electrolyte disorder that has serious effects. Cerebral venous thrombosis and aortic thrombosis are relatively rare in severe neonatal hypernatremic dehydration. The authors report a case of cerebral venous thrombosis, associated with aortic thrombosis revealed by dehydration in a 9-day-old boy.

[Pseudothrombotic microangiopathy related to vitamin B(12) deficiency].

Vitamin B(12), or cobalamin, deficiency is often unrecognized because the clinical manifestations are subtle; they are also potentially serious. We report a case of pseudothrombotic microangiopathy related to cobalamin deficiency. Vitamin B(12) deficiency, which is more commonly recognized in the context of malnutrition, should be considered in the context of microangiopathy.

Congenital insensitivity to pain with anhydrosis: report of a family case.

Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired.

Actuality of juvenile dermatomyositis.

Juvenile dermatomyositis is a rare disorder, but remains the most commonly occurring chronic inflammatory myopathy among children. Other than the proximal muscles and skin, which are routinely affected, vasculopathy may affect other viscera and can be multisystemic. A redefinition of the diagnostic criteria is currently underway and is likely to lead to other clinical signs and to sensitive and non-invasive examinations such as MRI.

Intracerebellar haematoma simulating congenital medulloblastoma during neonatal period.

The authors report a case of intracerebellar haematoma occurring during the neonatal period. A 5-day-old baby girl was admitted because of poor feeding and the anterior fontanelle was tense. CT scan of the brain revealed a round mass at the cerebellar vermis; the lesion simulated a cerebellar tumour such as a medulloblastoma.

An unusual complication of subcutaneous fat necrosis of the newborn.

Subcutaneous fat necrosis (SCFN) is a well-described cause of subcutaneous calcification occurring in a young infant. Calcification of areas of fat necrosis in the neonate is a rare condition. In this case, the radiographic demonstration of soft-tissue calcification revealed the skin calcification in the absence of clinical signs of SCFN and without hypercalcaemia in the first 48 h of life.

Juniper tar (cade oil) poisoning in new born after a cutaneous application.

Juniper tar (cade oil) is distilled from the branches and wood of Juniperus oxycedrus. It contains etheric oils, triterpene and phenols, used for many purposes in folk medicine. The authors report a case of a previously healthy new born treated with a topical application of Juniperus oxycedrus for atopic dermatosis The poisoning caused convulsions, collapsus, acute pulmonary oedema, renal failure and hepatotoxicity.

Cerebral ischaemic stroke and bilateral pheochromocytoma.

We report a case of a 10-year-old girl who presented with an acute neurological deficit preceded by a 2 month history of headaches. The patient was treated for acute viral encephalitis because of the presence of inflammation. A computed tomography (CT) scan of her brain scan showed a cerebral ischaemic stroke, and paroxysmal arterial hypertension led us to suspect pheochromocytoma.