Congenital liquified subcutaneous fat necrosis in a newborn: an unusual case.

Subcutaneous fat necrosis of the newborn is a self-limited disorder of the panniculus that arises in the first six weeks of life. Some differential diagnoses may be difficult such as bacterial cellulitis or erysipelas. The prognosis is usually favorable but there are serious complications for which the patient must be regularly monitored, especially hypercalcemia. We report a case of a full-term newborn with a liquidated area of subcutaneous fat necrosis. A surgical incision was performed because of the discomfort and the lack of regression. Hypercalcemia and nephrocalcinosis appeared afterward. A set of clinical, biological, and histological arguments allows the diagnosis of subcutaneous fat necrosis. Follow-up to early detection and to manage such complications is necessary.

Group B Streptococcus and Perinatality in the South of Tunisia: Epidemiology, Serotype Distribution, and Antibiotic Susceptibility.

INTRODUCTION: In the lack of updated Tunisian epidemiological data, we sought to describe the epidemiology of Group B Streptococcus (GBS) in pregnant women and newborns. MATERIALS AND METHODS: A retrospective analysis of GBS neonatal invasive infections and a cross-sectional study evaluating the prevalence of maternal GBS colonization were conducted. GBS isolates were tested for antimicrobial susceptibility, serotyped, and assessed for the appurtenance to the hypervirulent ST17 clone. RESULTS: Of 98 neonates with GBS, early-onset GBS disease (EOD) comprised 83.7 and 16.3% were late-onset GBS disease (LOD). The prevalence of maternal GBS colonization was 27%. All GBS isolates were susceptible to penicillin. Serotype III predominated (42.6%) for neonatal invasive infections. GBS isolates belonging to the ST17 sequence type were found only as serotype III. CONCLUSION: This study documents the frequency of GBS EOD, the high rate of maternal GBS colonization, and the predominance of the hypervirulent clone type III/ST17 in infants.

Airway management in a rare case of congenital palate teratoma with a cleft palate: A case report.

Airway management in neonates is difficult because of the risk of rapid hypoxia. It presents a challenge even for an experienced anesthesiologist. Oral tumors in neonates can obstruct the airway or feeding problems in the newborn. Surgical excision is the treatment of choice but these tumors can seriously worsen the conditions of intubation. To surmount these difficulties, a particular multidisciplinary approach and special precautions are needed. We describe the airway management and precautions taken in the anesthesia for surgical removal of a case of large congenital palate teratoma associated with a wide cleft palate in a 25-day-old girl. Impossible intubation was predicted on magnetic resonance imaging. The difficult airway management cart as well as an otorhinolaryngologist skilled in performing emergency tracheostomies in neonates were available. The patient was intubated by conventional laryngoscopy under sevoflurane inhalation anesthesia. The tumor was successfully resected. This case poses a challenge for managing the airway because of the possibility of obstruction of the airway and the difficulty of the airway that radiological exams have allowed us. So, a multidisciplinary team effort is needed for successful neonatal airway management.

Congenital Epulis Diagnosed Antenatally.

Background: Congenital epulis is a benign gingival tumor whose differential diagnosis includes other oral-facial masses such as teratoma, hemangioma, lymphatic malformation and dermoid cysts. This tumor can cause obstruction of the airway or feeding problems in the newborn. Surgical excision is the treatment of choice. Case Report: We present a case of congenital epulis, diagnosed prenatally with ultrasonography. Conclusion: Although difficult, a defined prenatal image of congenital epulis is possible by means of accurate high-resolution ultrasonography. It facilitates the narrowing down of differential diagnosis. The confirmatory final diagnosis relies on histopathological examination.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million life births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor (IR) gene "INSR". DS is characterized by pre- and postnatal growth retardation with failure-to-thrive, lipoatrophy, acanthosis nigricans, hypertrichosis, and dysmorphic features. An exhaustive INSR gene sequencing was performed after PCR amplification of coding exons and introns boundaries. Bioinformatic tools, including ESEfinder, MFOLD and Proter software were also used to predict the impact of INSR mutation on INSR on gene expression as well as on the protein structure and function. The results have shown a novel unusual c.3003_3012delinsGGAAG (p.S1001_D1004delinsRE) insertion/deletion (indel) mutation within the exon 16 in the three patients, which represent the fourth indel mutation within the INSR gene. The mutation modifies the secondary structure of DNA and RNA, as well as the composition of exonic splicing enhancers of exon 16. Moreover, despite the conservation of the secondary structure of the IR, the p.S1001_D1004delinsRE in-frame mutation is accompanied by the loss of four amino acids replaced by two residues of different nature and hydrophobicity level in the juxtamembrane domain of the receptor. The results have confirmed the role of the juxtamembrane domain of IR involved in a crucial interaction of the IR with cellular effectors essentially the IR substrate 1 (IRS-1), the SHC and the Nck proteins that ensure the signal mediated by the insulin transduction pathway in target cells. Our findings have also proven the genotype/phenotype correlation between INSR mutation and DS phenotype severity.

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.

Peters plus syndrome is an autosomal recessive rare disorder comprising ocular anterior segment dysgenesis, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects. Peters plus syndrome is related to mutations in the B3GALTL gene with only seven recently reported mutations, leading to the inactivation of the B1, 3-glucosyltransferase. In this study, we screened the B3GALTL gene in two unrelated patients with typical Peters plus syndrome. A novel homozygous c.597-2A>G mutation was identified in both patients. Bioinformatic analyses showed that this mutation modulates the pre mRNA secondary structure of the gene, and decreases the score value related to the formation of splicing loops. Moreover, the c.597-2A>G mutation is located in a CpG Island of the B3GALTL gene, suggesting a potential epigenetic role of this position including gene's methylation and regulation. These data confirm an important role of the B3GALTL gene test that provides diagnosis confirmation and improves genetic counseling for the families.

Iatrogenic neonatal bladder perforation.

Neonatal bladder rupture is rare as a complication of bladder obstruction due to abnormal anatomy or iatrogenic causes. The present study describes the case of a 3-day-old infant with ascites due to bladder perforation secondary probably to manual decompression of the bladder. The infant underwent successful surgical repair of the perforation.