3M syndrome: A Tunisian seven-cases series.

3M syndrome (3MS) is a rare autosomal recessive primordial growth disorder characterized by a severe pre- and post-natal growth deficiency, minor dysmorphisms and skeletal abnormalities, contrasting with normal intellect and endocrine function. Three different genes have been so far involved in the disease, with mutations in CUL7, OBSL1 and CCDC8. The CUL7 gene mutations are accountable for 77,5% of the genetically confirmed patients, with a founder mutation identified in exon 24 for the Maghreb families. The follow up is mainly orthopedic with possible GH-based treatment. The objective of this report was to carry out a clinical analysis of a series of Tunisian patients with features evoking 3MS and to perform a molecular analysis of the CLU7 exon 24. We carried out a descriptive retrospective study including Tunisian patients who consulted at the congenital disorders and hereditary diseases department of Charles Nicolle's hospital, Tunis, Tunisia, for intra-uterine onset growth retardation with normal intellect. We selected the patients having characteristic 3MS facial dysmorphia. The molecular analysis of the CUL7 exon 24 was performed using PCR and Sanger sequencing searching the founder mutation c.4451_4452delTG. Seven patients were included in this study. Consanguinity was noted for four families. The mean age at the first consult was 2.5 years. All the patients had an intra-uterine onset growth retardation with a preserved head circumference. All patients presented facial dysmorphia of 3MS, with a prominent forehead (7/7), a triangular face (6/7), an underdeveloped midface (7/7), a fleshy tipped nose (5/7), anteverted nares (6/7), a long philtrum (7/7) and full lips (4/7). All the patients presented skeletal abnormalities with various severities such as lumbar lordosis, hyperextensible joints, short thorax, square shoulders, hip dislocation, and prominent heels. Less frequent features were noted such as spina bifida occulta in one case, and single transverse palmar crease in 4 cases. One GH treatment response was reported. The molecular genetic analysis of the CUL7 gene (exon 24) revealed the founder mutation for all the patients which reinforces the hypothesis of founder effect for 3MS in the Tunisian population.

Gestational pituitary apoplexy: Case series and review of the literature.

Pituitary apoplexy is an uncommon but potentially life-threatening emergency due to abrupt ischemic infarction or hemorrhage of the pituitary tumor. In many instances, pituitary apoplexy is the initial presentation in patients who were not previously diagnosed to have pituitary adenomas. Variety of precipitating factors have been linked to the occurrence of pituitary apoplexy, which include pregnancy. However, pituitary apoplexy related to pregnancy is limited to isolated case reports and very small case series. The main symptom is headache of sudden onset associated with visual disturbances, signs of meningeal irritation, and/or endocrine dysfunction. In the context of pregnancy the diagnosis of pituitary apoplexy can be challenging and confused with other complex conditions such as pre-eclampsia. Magnetic resonance imaging is the most sensitive sequence to confirm the diagnosis by revealing a pituitary tumor with hemorrhagic and/or necrotic components. Corticotropic deficiency with adrenal insufficiency is a potentially life-threatening disorder for both mother and the fetus if left untreated. The choice between conservative management with dopamine agonists and glucocorticoid, this "wait and see approach" and trans-sphenoidal resection depend on the severity of neuro-ophtalmic signs and the gestational week. In this article, we present three cases of pituitary apoplexy related to pregnancy. Pituitary apoplexy occurred in the third trimester in the three cases. It was the first presentation of an unknown pituitary adenoma in two cases, and complicated a preexisting macroprolactinoma in the other case. All three cases of our patients had sudden onset of severe headache and deterioration of the visual field in two cases. The pituitary MRI performed in our patients was the essential tool confirming the diagnosis of pituitary apoplexy. In all the patients was prompt replacement of deficient hormones especially glucocorticoids with close surveillance. The trans-sphenoidal resection was indicated in two pregnant women; as the first choice treatment in one case presenting with papillary edema, and as the second line after the deterioration of the visual field in one case. In the lack of guidelines of management pituitary apoplexy in case of pregnancy, we review the existing literature with pertinent clinical presentation, radiological findings, management and maternal/fetal outcomes of this rare pathology. The aim is to provide a rational framework for therapeutic management of pituitary apoplexy during pregnancy.

Change in women's eating habits during the menstrual cycle.

OBJECTIVES: During the menstrual cycle, the influence of hormonal variations on dietary habits in women has been suggested by several studies. In this context, our work aimed to assess the spontaneous food intake and the anthropometric parameters of women at different periods of their menstrual cycles. METHODS: This prospective study included 30 healthy women with regular periods (28 to 30 days), aged between 18 and 45. We assessed the spontaneous food intake and the anthropometric measurements (weight and waist circumference) of the participants, during the follicular, peri-ovulatory and luteal phases of their menstrual cycles. RESULTS: Our results showed a slight but significant increase in body weight during the luteal phase (P=0.022) and the follicular phase (P=0.017) compared with the peri-ovulatory phase, without any significant change in waist circumference. The caloric intake increased during the peri-ovulatory (P<0.001) and the luteal phases (P<0.001), compared with the follicular phase, with a significant increase in carbohydrate (P<0.001), lipid (P=0.008) and protein (P=0.008) intake. CONCLUSIONS: Our study showed a significant decrease in women's weight during the peri-ovulatory phase, with a significant increase in caloric intake during the luteal phase of the menstrual cycle. Divergent results have been reported by other authors and the physiopathology of these changes is still poorly understood.

Septic arthritis of a lumbar facet joint case report and review of the literature.

Septic arthritis of a lumbar facet joint (SALFJ) is a very rare condition. It has mostly been described in adults. Only one other paediatric case has been reported. We present a case of septic arthritis of the left L5-S1 lumbar facet joint, associated with epiduritis and paraspinal abscess, in an 8-year-old boy. Plain radiographs and Technetium bone scan were negative. The diagnosis was made by blood cultures, which isolated staphylococcus epidermidis, and by MRI. The child was treated successfully with antibiotics only.

Bone diseases in children receiving growth hormone.

The authors report two cases of bone disorders in children with short stature, with confirmed growth hormone (GH) deficiency treated by GH supplementation. The first patient, aged 15 years, developed avascular necrosis of the femoral head and scoliosis. The second one, aged 17 years, had avascular necrosis of the femoral capital epiphysis on one side and acute slipped capital femoral epiphysis (SCFE) on the other side. All these complications were diagnosed while they were receiving GH-therapy. The exact aetiology and the role of GH in the pathogenesis of these conditions are still unknown.