Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was PTPN11, followed by SOS1, RAF1, KRAS, BRAF, NRAS, MAP2K1, and RIT1, and recently SOS2, LZTR1, and A2ML1, among others. Progressively, the physiopathology and molecular etiology of most signs of Noonan syndrome have been demonstrated, and inheritance patterns as well as genetic counseling have been established. In this review, we summarize the data concerning clinical features frequently observed in Noonan syndrome, and then, we describe the molecular etiology as well as the physiopathology of most Noonan syndrome-causing genes. In the second part of this review, we assess the mutational rate of Noonan syndrome-causing genes reported up to now in most screening studies. This review should give clinicians as well as geneticists a full view of the molecular aspects of Noonan syndrome and the authentic prevalence of the mutational events of its causing-genes. It will also facilitate laying the groundwork for future molecular diagnosis research, and the development of novel treatment strategies.

The contribution of renal biopsy (RB) is of major importance in the management of many renal diseases in children. Specific indications for performing biopsy in children include steroid-resistant nephrotic syndrome (NS) and secondary nephropathies. The aim of our study was to report the common histological varieties of kidney diseases in children in Morocco. In this retrospective and descriptive study, we included all renal biopsies performed in patients under 16 years in the Department of Pediatrics of Hassan II University Hospital, Fez, Morocco from July 2009 to December 2013. Biopsy samples without glomeruli and those with less than five glomeruli or repeat biopsies on the same patient were excluded from our study. We performed 112 RBs during this period; the average age at the time of RB was 10.05 ± 4 years and the sex-ratio was 1.07. The indications for RB were NS with hematuria and/or renal failure (RF) in 32.1%, active urinary sediment in 21.4%, isolated NS in 15.2%, RF in 13.4% and steroid-resistant NS in 10.7% of cases. Primary nephropathies represented 59.8% of cases, with a predominance of minimal change disease (MCD) seen in 40.2% of the cases. Secondary nephropathies accounted for 27.7% of the cases, with a predominance of lupus nephritis (11.6%), followed by Henoch-Schonlein purpura nephritis (6.2% of cases) and post-streptococcal glomerulonephritis (3.6%). There was one case of hepatitis B virus-associated membranous glomerulonephritis. Chronic glomerulonephritis accounted for 12.5% of the cases. Vascular and tubulo-interstitial nephritis were rare. Our study confirmed that primary glomerular nephropathy was the most common renal disease in children. The most common lesion was MCD. Secondary nephropathies were less frequent, with a predominance of lupus nephritis.

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. Culprit drug withdrawal and corticosteroids constituted the mainstay of DRESS treatment. We describe a 6 year-old boy who presented fever and rash 4 weeks after starting carbamazepine. Investigation revealed leukocytosis, atypical lymphocytosis, and elevated serum transaminases. The diagnosis of DREES syndrome was made, Carbamazepine was stopped and replaced initially by Clobazam and by Valproic acid after discharge, no systemic corticotherapy was prescribed. Symptoms began to resolve within two weeks, and by one month later her laboratory values had returned to normal. The aim of this work is to raise awareness general practitioner and pediatricians to suspect Dress syndrome in patients who present with unusual complaints and skin findings after starting any antiepileptic drug.

Scorpion stings are a public health problem in Morocco, especially among children, who experience the most severe cases. Epidemiological and clinical findings on scorpion stings in Fez, Morocco, were evaluated in this investigation. Of 163 cases that required medical attention, 62.6% were male children. The mean age of patients was 4.8 ± 3.4 years. The mean time between stings and first medical attention was 3.36 ± 2.5 hours. Almost all cases occurred in the summer (94%) and extremities represented the most frequent sting sites (86.5%). Local pain, hyperemia, scarification, vomiting, sweating, restlessness, tachycardia and tachypnea were the observed clinical symptoms. Regarding severity, 55.2% of patients belonged to class III, followed by class II (26.4%) and class I (18.4%). None of our patients received antivenom; however, all of them were treated symptomatically depending on clinical manifestations.

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