N. Mahdhaoui

Épulis 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.

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.

Fait cliniqueConvulsions néonatales révélant une incontinentia pigmentiNeonatal seizures revealing 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.

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.

Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature

Aim6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is a rare imprinting disorder characterized by uncontrolled hyperglycemia during the first 6 months of life. The molecular etiology of 6q24-TNDM is attributable to overexpression of the paternally inherited PLAGL1 and HYMAI genes located on the 6q24 locus. One of these major defects is maternal loss of methylation (LOM) at 6q24. In addition, approximately 50% of TNDM patients that present LOM at 6q24 can also display hypomethylation at additional imprinted loci (multilocus imprinting disturbances, MLID). Interestingly, the majority of these patients carry mutations in the ZFP57 gene, a transcription factor required for the adequate maintenance of methylation during early embryonic development.MethodsMethylation analysis of 6q24 and additional imprinted loci was carried out by MS-MLPA in a Tunisian male patient with clinical diagnosis of TNMD. For the same patient, mutation analysis of the ZFP57 gene was conducted by direct Sanger sequencing.ResultsWe report a novel nonsense mutation (c.373C > T; p.R125*; ENST00000376883.1) at the ZFP57 gene causing TNDM-MLID and describe detailed phenotype/epigenotype analysis of TNMD patients carrying ZFP57 mutations.ConclusionWe provide additional support to the role of ZFP57 as a genetic determinant cause of MLID in patients with TNMD.

La varicelle périnatale: risques et prise en charge fœtale et néonatale

The occurrence of clinical varicella during pregnancy is rare but it may pose maternal and fetal risks. Perinatal maternal varicella may result in potentially severe neonatal varicella, especially when maternal eruptions occur between 5 days before and 2 days after delivery. We report eight cases of newborns of mothers with varicella in the peri-partum period in order to synthesize the current state of knowledge on the risk of contracting virus as well as to develop treatment protocol. We conducted a descriptive study at the Maternity and Neonatology Center, Sousse, over a period of 10 years. Eight newborns were included in the study. Prenatal diagnosis was made in 7 mothers. Only a woman developed varicella 3 days after delivery. Five newborns were symptomatic on admission. All newborns had typical varicella skin lesions, three of them had respiratory distress associated. Treatment was based on newborn isolation, local skin care and Acyclovir therapy. Patients evolution was favorable. The occurrence of varicella infection during pregnancy remains possible in the countries where vaccination is still not accessible to all. The risk of maternal and fetal complications justifies specific and well codified treatment.