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.

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.

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.

AIM: The aim of the study is to report on epidemiological, clinical, and biochemical characteristics of nonketotic hyperglycinemia (NKH) in Tunisia. METHODS: Patients diagnosed with NKH in Laboratory of Biochemistry at Rabta hospital (Tunis, Tunisia) between 1999 and 2018 were included. Plasma and cerebrospinal fluid (CSF) free amino acids were assessed by ion exchange chromatography. Diagnosis was based on family history, patient's clinical presentation and course, and increased CSF to plasma glycine ratio. RESULTS: During 20 years, 69 patients were diagnosed with NKH, with 25 patients originating from Kairouan region. Estimated incidences were 1:55,641 in Tunisia and 1:9,684 in Kairouan. Consanguinity was found for 73.9% of the patients and 42% of the families have history of infantile death due to a disease of similar clinical course than the propositus. Clinical symptoms initiated within the first week of life in 75% of the patients and within the first 3 months in 95.7% ones. The phenotype was severe in 76.8% of the patients. Main symptoms were hypotonia, feeding difficulties, coma, apnea, and seizures. Most patients died within few days to months following diagnosis. CSF to plasma glycine ratio was increased in all patients. CSF and plasma glycine levels were negatively correlated with age of disease onset and severity. CONCLUSION: NKH is quite frequent in Tunisia. Kairouan region has the highest NKH incidence rate, worldwide. However, due to lack of confirmatory enzymatic and genetic tests, NKH diagnosis was based on first-line biochemical tests. Characterization of causal mutations is needed for accurate diagnosis and prenatal diagnosis of this devastating life-threatening disease.

Extremely preterm infants in Tunisia: Where are we now?

BACKGROUND: Extremely preterm infants are newborns born before 28 weeks of gestation. Survival of these immature newborns depends on resuscitation and the quality of care during hospitalization. OBJECTIVE: To determine survival and neurologic outcomes at2 years after extremely preterm birth. METHODS: It is a retrospective multicentric study in 5 neonatal intensive care units (NICU) in 2012-2013.All live births less than 28 weeks gestation were included. RESULTS: A total of 109 births were recorded. Prenatal corticosteroids were given in 47% of cases. Mean weight was 989g and mean age was 26 weeks gestation. Ninety percent of patients had respiratory distress syndrome and 67% of them needed respiratory support. Surfactant was given to 29% of newborns. The mortality rate atdischarge was 76%.The first cause of mortality was nosocomial infections. At thecorrected age of 2 years, 27% of survivors had abnormal neurologic outcome. CONCLUSION: In our study, survival and neurologic outcomes ofextremely preterm infants were poor.In this high-risk population, improving perinatal care remains a challenge to improve long-term outcome in Tunisia.

Treacher Collins syndrome: A case report and review of literature.

Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist in our case. Goldenhar syndrome shares with TCS some facial features which are not symmetrical and it is also associated with vertebral abnormalities. Some patients with TCS are exposed to many complications and they require multi-disciplinary medical care. But all of them need psychiatric care to fight social rejection. The aim of our report is to describe the most common features of TCS and similar syndromes. Also, report the involved genetic mutations, some associated complications, and their management.

Risk factors of early mortality after neonatal surgery in Tunisia.

BACKGROUND: Research concerning factors of death after neonatal surgery is scarce. Insight into mortality might improve perioperative care. This study aimed to identify predictive factors of mortality after neonatal surgery in a low income country (LIC). METHODS: Charts of all newborn patients who underwent surgical procedures under general anesthesia during the neonatal period in our department of pediatric surgery between January 2010 and December 2017 were reviewed. We used univariate and multivariate analysis to evaluate perioperative variables potentially predictive of early postoperative mortality. RESULTS: One hundred eighty-two cases were included in the study: 41 newborns (28.6%) were premature (<37 weeks of gestation) and 52 (22.5%) weighed less than 2.5 kg. The most commonly diagnosed conditions were esophageal atresia (24%) and bowel obstruction (19%). Forty-four patients (24%) died during hospitalization. The highest rate of mortality was observed for congenital diaphragmatic hernia. Univariate analysis showed that perinatal predictive variables of mortality were prematurity, low birth weight, the necessity of preoperative intubation, and duration of surgery more than 2 h. Logistic regression showed three independent risk factors, which are the duration of surgery, low birth weight and the necessity of preoperative intubation. CONCLUSION: The overall mortality in infants undergoing neonatal surgery is still high in LICs. Knowledge of independent risk factors of early mortality may help clinicians to more adequately manage the high-risk population. TYPE OF THE STUDY: Clinical research paper. LEVEL OF EVIDENCE: III.

Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl.

Hepatic dysfunctions are not infrequent in patients with hyperthyroidism. These disorders may be related to the effects of the excess thyroid hormone secretion, to the uses of antithyroid drugs, or to the presence of concomitant hepatic diseases. Our aim is to describe the clinical and biochemical features of liver dysfunction related to thyrotoxicosis. We report here a case of a 6-year-old girl who was admitted for jaundice and pruritus as a result of the development of hyperthyroidism due to Graves' disease. On physical examination at admission, she was found to have jaundice and hepatomegaly. Laboratory data show cholestasis and protein-losing enteropathy. Investigations exclude other causes of hepatic disorder. One month after the initiation of antithyroid drug, the patient became euthyroid with improvement in jaundice and pruritus and normalization of hepatic tests and alpha antitrypsine clearance. In conclusion, the diagnosis of hyperthyroidism may be delayed in patients in whom the primary manifestations were pruritus and jaundice. The physician should suspect thyrotoxicosis prior to hepatitis or skin manifestations.