Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.

BACKGROUND AND OBJECTIVES: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this syndrome was shown to be due to a mutation in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42-q43. We aimed to detect and confirm the common mutation responsible for SSS in Tunisian patients and review the literature in order to create a set of clinical diagnostic criteria that might provide appropriate indications for molecular testing. METHODS: Three Tunisian patients with clinical feature of SSS were examined via direct Sanger sequencing of exon 3 of the TBCE gene. RESULTS: Mutation analysis of the TBCE gene revealed the common 12-bp (155-166del) deletion in three new patients, thus raising the number of reported SSS patients to 73. Reviewing the literature, we suggest a scoring system that assigns one point each for major criteria and one half point for minor criteria. INTERPRETATION AND CONCLUSIONS: SSS is an autosomal recessive disorder found in the Middle Eastern population with an estimated incidence of 1 per 40,000-100,000 live births in Saudi Arabia. Reviewing the literature on both its clinical and biochemical characteristics, we suggest for the first time, based on defined major and minor SSS criteria, a clinical scoring system for the diagnosis of SSS. On the one hand, an established scoring system will provide appropriate indications for molecular testing and, on the other hand, reviewed data on SSS will help delineate the phenotype and draw a distinction between differential diagnoses.

[Congenital laryngeal cyst: an uncommon cause of stridor in neonates]. / Kyste laryngé congénital: une cause rare de stridor chez le nouveau-né

Laryngeal cyst is a rare but generally benign lesion in the larynx. It may cause stridor and life-threatening airway obstruction in early infancy. We report the case of a neonate who developed respiratory distress 24h after birth in relation with materno-fetal infection. Airway obstruction was then suspected because of stridor. A laryngeal mass was discovered at the time of intubation. The infant experienced a nosocomial infection and died on day 14 of life before any surgical treatment. Autopsy concluded in an epiglottic congenital laryngeal cyst.

[Congenital pulmonary lymphangiectasis: an unusual cause of respiratory distress in neonates]. / Lymphangiectasies pulmonaires congénitales: une cause rare de détresse respiratoire néonatale.

Congenital pulmonary lymphangiectasis (CPL) is a rare condition in neonates characterized by abnormal dilatation of the lymphatics draining the interstitial and subpleural spaces of the lungs. Diagnosis is difficult in the neonatal period because respiratory features and radiological findings are not specific of the disease. Definitive diagnosis of CPL can be made only by pathologic examinations. We report a case of a male near-term neonate presenting with severe respiratory distress at birth. The initial chest X-ray showed frosted glass-like infiltrates with air bronchogram suggesting a maternofetal infection or respiratory distress syndrome. The infant required mechanical ventilation and chest tube insertion for right then bilateral pneumothorax. The child died 15 days later in spite of optimal high-frequency ventilation, bilateral pneumothorax drainage, and hemodynamic support. Autopsy revealed features consistent with the diagnosis of CPL. Although CPL is very rare, we should be aware that it is a possible cause of severe unexplained respiratory distress in neonates.

[Spontaneous neonatal arterial thrombosis: a report of 4 neonates]. / Thromboses artérielles néonatales non causées par un cathétérisme artériel: à propos de 4 observations.

Arterial thromboses are rare in newborns, mostly caused by arterial catheters. Neonatal arterial thrombosis occurring in other contexts is much rare. We report arterial thrombosis, not caused by catheterisation in 4 neonates hospitalised in the neonatology department of the Farhat Hached de Sousse hospital in Tunisia. The diagnosis of arterial thrombosis was made based on signs of ischemia in 2 patients affected by thrombosis of the iliac arteries. The symptoms were less clear: anuria associated with arterial high blood pressure in 1 patient affected by thrombosis of the abdominal aorta and by anuria with melena in a newborn with aortic and mesenteric thrombosis. Diagnosis was confirmed by Doppler sonography in 3 patients and based on autopsy data in 1 patient. A delay to consultation was noted in 3 patients, whose outcome was fatal. The progression was favourable after thrombolysis and anticoagulation using heparin in 1 patient with major aortic thrombosis. A review of the literature on the epidemiological, clinical, therapeutic and outcome data of the arterial thrombosis in the newborn child is provided.

[Thoracic congenital ectopic right kidney with diaphragmatic hernia: a rare developmental anomaly]. / Rein droit intrathoracique et hernie diaphragmatique congénitale : une association rare chez le nouveau-né

Ectopic intrathoracic kidney is a very rare congenital anomaly, which is often asymptomatic and discovered incidentally on chest radiography. Diagnosis of this ectopia in the neonatal period is extremely rare. We report the case of a female infant admitted for mild respiratory distress at birth in relation with maternofetal infection in whom a right posterior opacity on chest x-ray was diagnosed as intrathoracic kidney by sonography and chest CT scan. Diaphragmatic hernia could not be confirmed at this stage. At 2 months, the presence of air blebs on chest x-ray performed for viral bronchiolitis confirmed an associated right Bochdalek hernia. The infant, although asymptomatic, underwent surgery. The intrathoracic kidney was reduced into the abdominal cavity at the time of surgery. The postoperative course was uneventful and renal function was normal.

[Neonatal seizures revealing incontinentia pigmenti]. / Convulsions néonatales révélant une incontinentia pigmenti.

Incontinentia pigmenti (IP) is a rare affection inherited as X-linked dominant disease. It is usually lethal in male infants. IP can affect ectodermal tissues such as the skin, teeth, eyes, bones, and the central nervous system. Skin lesions occur mostly during the neonatal period and are characterized by a classic progression in 4 stages leading to hyperpigmentation. We report on the case of a female neonate presenting on the 3rd day of life with seizures without obvious cause, in which the diagnosis of IP was made 1 week later when skin lesions appeared.

[Systemic congenital candidiasis, a rare condition in neonates: case report in a premature infant]. / Candidose congénitale systémique, forme rare de candidose néonatale : à propos d'une observation chez un nouveau-né prématuré

UNLABELLED: Congenital cutaneous candidiasis presenting at birth is very uncommon and is due to intra-uterine infection. The systemic form has to be considered when cutaneous signs are associated with sepsis symptoms. CASE REPORT: A female infant was born by vaginal delivery at 35 weeks' gestation to a mother whose pregnancy had been complicated by urinary tract infection treated 3 days before delivery. The infant was admitted because of respiratory distress. Clinical features consisted of respiratory retraction signs associated with hepatomegaly and rash on the trunk. The white blood cell (WBC) count was 50 × 10(9)/L and C-reactive protein was negative. Maternofetal bacterial infection was suspected and intravenous antibiotics were prescribed. Over the next 6h, macules appeared on the trunk, back, and limbs, which changed after 24h into papulovesicular lesions over the trunk, back, limbs, palms, and scalp. Congenital candidiasis was suspected, confirmed by cultures from vesicle swabs and maternal vaginal discharge. The systemic form was considered because of respiratory distress requiring oxygen therapy for 4 days, hepatomegaly, elevated WBC count, and chest X-ray infiltrates. The infant was started on intravenous systemic antifungal therapy (fluconazole, 6 mg/day). Treatment was continued for 3 weeks. The rash resolved by desquamation after about 1 week and hepatomegaly disappeared. The infant remained well at follow-up.

[Obstructive congenital multiple epulis. A case report in a male neonate]. / Epulis congénitale obstructive à double localisation. A propos d'une observation chez un garçon.

Congenital epulis or congenital gingival cell tumour is a rare tumour in the neonate. It arises from the gingival mucosa. This benign condition can be life threatening when obstructive. In this report, a case of a male neonate, with features of obstructive congenital epulis arising from both maxillary and mandibular alveolar ridge, interfering with breast-feeding is described. Diagnosis was suspected clinically and confirmed by histology. Outcome was good after prompt surgery.

[Acute renal failure in full term neonates with perinatal asphyxia. Prospective study of 87 cases]. / L'insuffisance rénale aiguë au cours de l'asphyxie périnatale du nouveau-né à terme. Etude prospective de 87 cas.

BACKGROUND: Renal involvement is frequent in neonates with perinatal asphyxia. It is correlated with the severity of neurological damage and seems to worsen the long-term neurological outcome. PURPOSE: The aim of this study was to determine the incidence of renal failure after perinatal asphyxia, to precise the relationship between severity of cerebral damage and renal failure and to evaluate the place of renal damage in the short- and middle-term neurological outcome. POPULATION AND METHODS: We conducted a prospective study including 87 full-term neonates admitted in the neonatology department of F. Hached university hospital in Sousse (Tunisia) and suffering from hypoxic ischemic encephalopathy from 1st January 2003 to 30 June 2005. Renal function was assessed by measuring plasma urea and creatinine at age 48 h. Renal failure was defined by a level of creatinine above 90 micromol/l. Neurologic examination was performed on day 7. The survivors were followed up by the same senior after discharge. RESULTS: During the study period, 87 full-term neonates were admitted for hypoxic ischemic encephalopathy. The degree of neurological impairment was determined according to Sarnat classification: 1st stage 9 neonates (10,3%), 2nd stage 67 (77%) and 3rd stage 11(12,6%). Renal failure involved 15 neonates (17,2%) of whom 10 belonging to the 2nd stage group. Renal function outcome was favorable in all survivors with normalisation of plasma creatinine level between day 5 and day 15. Eight neonates died, of whom 3 with renal failure. Neurologic examination was abnormal in 36 out of 72 (50%) neonates without renal failure and in 9 of the 12 (75%) survivors with renal failure. Among the 12 neonates with renal failure, 7 had abnormal neurologic features at discharge. Neurologic assessment between 6 and 18 months was abnormal in 4/12 (33%) of neonates with renal failure versus 8/72(11%) of neonates without renal failure. CONCLUSION: Transient renal failure is commonly observed in perinatal asphyxia. Renal failure is correlated with neurologic severity. Renal function assessment using creatinine plasma level seems to be correlated with neurologic outcome. However, other tools appreciating renal function, namely tubular function, should be determined earlier in order to predict neurologic outcome after hypoxic ischemic encephalopathy.

[Major neonatal aortic thrombosis: a case report]. / Thrombose aortique néonatale majeure: à propos d'une observation.

Aortic thrombosis is a rare and severe condition in neonates which often is revealed by ischemia of lower limbs. We report a case of major aortic thrombosis revealed by renal failure, hematuria and dehydration in a 10-day-old girl. Clinical features consisted in hypertension at upper limbs without ischemic signs of the lower limbs. Diagnosis was made using renal Doppler ultrasound. Thrombosis resolved after thrombolytic treatment and anticoagulation using heparin. The case report is followed by a review of the literature dealing with clinical, etiological and therapeutic aspects of neonatal arterial thrombosis.

Outbreak of Pseudomonas putida bacteraemia in a neonatal intensive care unit.

During the period of 9-27 March 2001, Pseudomonas putida strains were recovered from 10 neonates hospitalized in the neonatal intensive care unit of Farhat Hached Hospital, Sousse (Tunisia). Seven neonates developed bacteraemia, and three had an umbilical catheter-related infection (without bacteraemia). A total of 18 isolates were cultured from blood (N = 11) and catheters (N = 7). These isolates were identified as P. putida by routine biochemical methods (API 20 NE, bioMérieux, Lyon, France). Restriction endonuclease DNA profiles were determined by pulsed-field gel electrophoresis using two endonucleases XbaI and SpeI. They yielded the same patterns showing that the outbreak was caused by a single clone of P. putida. Although the antiseptic solutions used to clean the umbilicus were implicated circumstantially as probable sources, they were not sampled and so this could not be confirmed.

[Familial hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome]. / Cardiomyopathie hypertrophique familiale associée à un syndrome de Wolff-Parkinson-White.

Familial hypertrophic cardiomyopathy (HCM) with Wolff-Parkinson-White (WPW) syndrome is extremely rare and associated with a high risk of ventricular tachyarrhythmia and sudden death. We report a familial form of hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome in two siblings 7 and 12-year-old. These patients showed progression to left ventricular dilatation. Early recognition and treatment of such forms can improve such evolution and the risk of sudden death.

[Familial hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome revealing type II glycogenosis]. / Myocardiopathie hypertrophique familiale associée à un syndrome de Wolf-Parkinson-White révélant une glycogénose type II.

UNLABELLED: Symptoms of the late infantile form of type II glycogen storage disease are mainly due to functional impairment of skeletal muscle. Cardiac muscle can be involved in the late stage of the disease. CASE REPORT: We report the cases of two siblings seven and 12 years old with type II glycogen storage disease. The initial symptoms were hypertrophic cardiomyopathy with Wolf-Parkinson-White syndrome. CONCLUSION: Hypertrophic cardiomyopathy may be the form of presentation of the late infantile form of type II glycogen storage disease. The risk of sudden death is high.