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.

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…).

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.

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.

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.

[Biological variation of glycation and mean blood glucose have greater influence on Hba1c levels in type 1 young diabetic patients than glucose instability].

The aim of the study was to assess the relative influence of mean blood glucose (MBG), glucose instability (GI) and biological variation of glycohemoglobin (BVG) on HbA1c. The study included 378 unselected young type 1 diabetic patients with a diabetes duration > 1 year. There were 1,409 visits with simultaneous HbA1c determinations and self-monitoring of BG meter downloads.

[Lemierre syndrome].

Lemierre's syndrome is a rare and severe condition, with a primary focus in the cervicofacial area and followed by thrombosis of the internal jugular vein and metastatic infections, most often pulmonary. The principal pathogen is Fusobacterium necrophorum. Less rare and associated with high mortality before antibiotics, Lemierre syndrome had became exceptional until the increase in the number of cases in recent years.

Haemolytic disease of the newborn due to anti-c.

Anti-D isoimmunisation remains the most common cause of erythroblastosis fetalis. Whereas most clinically significant blood group sensitisations noted during pregnancy are still secondary to anti-D incompatibility, sensitisation to antigens other than D in the CDE system is not uncommon and can cause severe disease. The widespread use of Rh-D immune globulin has led to a relative increase in the importance of non-Rh-D isoimmunisation as a cause of haemolytic disease of the newborn.

Lemierre syndrome: once seen it can never be mistaken.

Lemierre syndrome is a rare but severe septicaemia due most frequently to Fusobacterium necrophorum, with primary foci in the head, internal jugular vein thrombosis and metastatic infections, mainly in the lungs. We report two cases of Lemierre syndrome admitted to the paediatric unit of our hospital at 2-month intervals. The first was 10 years old and the second one was a 3-month-old infant.