[Moderated form of Morquio syndrome: an unknown cause of short stature (three case reports)]. / Forme atténuée du syndrome de Morquio : une cause méconnue de retard statural (à propos de trois cas).

Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder.

45,X/46,XY mosaicisme: report of five cases and clinical review.

INTRODUCTION: The mosaicism 45, X/46, XY is a gonosomal abnormality characterized by a broad phenotypic spectrum, ranging from women with or without Turner syndrome stigmata, to men apparently normal, passing by the ambiguous phenotypes with variable virilisation of external genitalia. From the histological point of view, several situations may arise. PATIENTS AND METHODS: We analyzed the clinical, hormonal, sonographic, and genitographics data, as well as peroperative and histological findings for five cases of mosaicism 45, X/46, XY, and we discussed treatment performed. RESULTS: The mean age of patients was 6.6 years, two had a female phenotype with clitoral hypertrophy (one of them had Turner syndrome stigmata), one had a normal male phenotype with bilateral cryptorchidism and two had an ambiguity of external genitalia assigned to male. Short stature was noted for four patients. Surgical exploration concluded to the diagnosis of mixed gonadal dysgenesis for four of our patients. No cases of gonadoblastoma have been reported, for girls a prophylactic gonadectomy was performed, for boys the streak gonad was resected and the dysgenetic testis biopsied and preserved, subject for constant monitoring. CONCLUSION: This heterogeneity indicate the importance of an accurate clinical and histological evaluation of any patient presenting with 45, X/46,XY mosaicism.

Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis.

The hemihypertrophy or hemihyperplasy is a rare congenital abnormality, characterized by an asymmetric growth of the limbs, the trunk, and the face or half of the entire body. It may be isolated or be part of several syndromes including Beckwith-Wiedemann syndrome, Klippel-Trenaunay-Weber syndrome, Silver-Russell syndrome and Proteus syndrome. In its isolated form, it is called idiopathic. The latter may be associated with several anomalies including dermatological and urogenital abnormalities with increased risk of developing embryonal tumors. We report the case of a 22-month-old infant, who was referred by his pediatrician at the age of 15 months for a corporeal hemihypertrophy associated with hemihypertrichosis. In his medical history, a second degree parental consanguinity and a hypospadias in the father and a paternal uncle were found. Clinical examination found a weight and a size greater than chronological age (3 standard deviations), a hemihypertrophy of entire left side with a difference of length and diameter between the left and right limbs of 2 cm. The hemihypertrichosis was widespread in the left body and the genital examination found a hypospadias. Biological and radiological assessments did not show any abnormality, with the exception of an initially high plasma testosterone level, which gradually normalized. Thus, the diagnosis of idiopathic hemihypertrophy with congenital hemihypertrichosis was retained. This is the fourth case reported in the literature. Its management is similar to all hemihypertrophies, which consists of an initial assessment to detect an embryonic tumor, followed by a monitoring protocol including an abdominal and renal ultrasound every 6 months until the age of 8, determination of alpha-feto-protein every 6 to 12 weeks until the age of 4 years to track the development of the two most frequent tumors: Wilms tumor and hepatoblastoma. The hemihypertrophy associated with hemihypertrichosis has been exceptionally reported and the cause of this association has not been identified to date.

Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.

BACKGROUND/AIMS: Steroid 11beta-hydroxylase deficiency (11OHD), the second cause of congenital adrenal hyperplasia (CAH), accounts only for 5% of all CAH. To date, only 51 different mutations have been reported with poor clinical and biological data. Most of them could be considered as private mutations except one, p.R448H, identified especially in Moroccan Jews but also in Caucasian patients. As two other CYP11B1 mutations have a high incidence in Tunisian patients, we report from another Maghreb population the clinical, follow-up and molecular genetics of 5 Moroccan patients with classical 11OHD. METHODS: Patients belonging to 3 families were recruited on clinical data. The diagnosis was confirmed by 11-deoxycortisol determination. Sequencing of the CYP11B1 gene and molecular modeling were performed. RESULTS: Clinical, hormonal and follow-up data were consistent with a severe form of 11OHD. Gender reassignment and evolution of hypertension were discussed. Three novel mutations, p.Ala259Asp, p.Gly446Val and IVS5+2T>G were identified. As each patient was homozygous for one mutation, we could deduce from their phenotype and our modeling studies that the p.Gly446Val mutation was more severe than p.Ala259Asp. CONCLUSION: This study shows a good correlation between phenotype and genotype. Each CYP11B1 mutation is new and private, contrasting with the high incidence of two Tunisian mutations.

[Sex of rearing in 46,XY partial gonadal dysgenesis (case report)]. / Choix de sexe dans les dysgénésies gonadiques partielles XY (cas clinique).

XY patients with gonadal dysgenesis present with a wide array of clinical pictures that is characterised by a variable incomplete virilisation of the external genital organs (female phenotype, posterior hypospadias, cryptorchidism) and the persistence of the internal müllerian duct structures. The birth of a child with this type of abnormality is a social phenomenon, which will probably have a physical and psychical impact. The choice of the sex depends on the organic anatomy, diagnosis age, risk of gonadal tumors and the development possibilities (mainly at puberty) of the child. The registration of the civil status can be made only after determining the sex through the aforementioned anatomical and functional study. Once this process is finished, the treatment must be considered. We report our experience, particularly complicated in the choice of the sex of child, with an XY karyotype and partial gonadal dysgenesis. Raised as a girl until her seventh day when her parents noticed the existence of a genital bud and decided to register their child as a boy in the civil status. He was referred to our hospital, at the age of 16 months, in order to explore a bilateral cryptorchidism and posterior hypospadias. Our patient was declared to be a boy based on an unanimous opinion of a multidisciplinary team.

[Anomalous origin of the left coronary artery from the pulmonary artery: report of 4 cases]. / Anomalie de naissance de la coronaire gauche à partir de l'artère pulmonaire: à propos de quatre observations.

Ahomalous origin of the left coronary artery from the pulmonary artery is a rare but severe congenital cardiopathy that often causes myocardial infraction within the first months of birth, often with congestive heart failure. We report four cases, three boys and one girl. The appearance of the first symptoms is early, usually between the second and the fifth month. The chest X-ray showed cardiomegaly. Echocardiography showed dilated and hypokinesis cardiomyopathy. In all patients the diagnosis was suspected because the standard electrocardiogram showed a constant deep Q wave in leads I and aVL. Angiography with coronarography was realized in only two cases confirming the diagnosis. The left coronary was directly reimplanted into the aorta in one child at 12 months, he has improved throughout six years. Two infants died after four and six years; one child had a spontaneous progressive recovered normal ventricular function because he had an important collateral circulation from right coronary artery. In conclusion, this rare ischemic myocardiopathy is serious because it's life threatening. The indirect signs given by the electrocardiogram and the echocardiography are of a big diagnosis aid. The prognosis depends on the precocity of the chirurgical reimplantation.