Imene Dahmane Ayadi

Prevalence of vitamin D deficiency in mothers and their newborns in a Tunisian population

To assess vitamin D status in mothers and their newborns and identify predictive factors of vitamin D deficiency.

Isolated anti-Ro/SSA thrombocytopenia: a rare feature of neonatal lupus

We report a rare case of isolated thrombocytopenia related to anti-Ro/SSA antibodies. The mother was followed for unlabeled familial thrombocytopenia. The mother had positive anti-Ro/SSA antibodies. She was asymptomatic without skin lesions or other criteria neither of systemic lupus erythematosus nor other connective tissue disease. Pregnancy was uneventful. The postnatal examination was normal. On the first day of life, blood cells count showed thrombocytopenia at 40 x 109/L. Within the second day of life, platelet level dropped to 20 x 109/L. The management of thrombocytopenia included platelet transfusion and human immunoglobulin infusion. On the fifth day of life, there has been a drop in platelet count to 10 x 109/L requiring renewed platelet transfusion and human immunoglobulin infusion. On the 10th of life platelets rate was stable around 60 x 109/L. The infant had no evidence of cardiac, dermatologic or hepatobilary involvement initially or throughout follow up.

Perinatal-lethal Gaucher disease presenting as hydrops fetalis

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gauchers disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.

Fetal cyst reveling retroperitoneal enteric duplication

Retroperitoneum is a very uncommon site of enteric duplication (ED). We report a new case of retroperitoneal ED cyst suspected in utero. Prenatal ultrasound showed an abdominal cystic mass. Noncommunicating retroperitoneal ED cyst measuring 70 mm × 30 mm was resected. Histopathologic examination confirmed the diagnosis.

Prenatal intraventricular hemorrhage in a term infant with congenital CMV infection

Intraventricular hemorrhage (IVH) occurs rarely in term infant, since subependymal area is a transient structure in fetal life. IVH in term infant indicates generally that it happened prenatally. Congenital cytomegalovirus (CMV) infection is frequent, occurring in 1% of live births. It is a severe infection leading to developmental defects, especially sensorineural deafness. The diagnosis of congenital CMV infection is rarely evoked in term eutrophic newborn. We report a term male neonate born to a 32-year-old mother gravida 2, para 2. Pregnancy was uneventful. Ultrasound follow-up was unmarked. The newborn was eutrophic, birth weight was 3400g, length was 49cm, and head circumference 33cm. Neonatal examination showed no anomalies. On the first day of life, blood cells count performed for suspected materno-fetal infection discovered fortuitous thrombocytopenia at 30 x 109/L. Within the second day of life, platelet level dropped to 20 x 109/L. Management of thrombocytopenia included multiple platelet transfusion. Cranial ultrasound on day one of life showed bilateral subependymal hemorrhage with cysts (A) and hydrocephaly (B), signs of prenatal occurrence. Platelet phenotypage rules out the diagnosis of allo-immune thrombocytopenia. Laboratory testing for rubella was negative. Blood PCR CMV was positive. Liver function tests noted the absence of hepatic cytolysis and cholestasis. The newborn received intravenous Ganciclovir® therapy. Hearing screening before discharge was negative. Bilateral deafness was diagnosed at 3 months of life.

Intracranial epidural hematoma in a newborn with DIC secondary to congenital rubella

Epidural hematoma in newborns is rare, it occurs more frequently in infants born from nulliparous mothers with delivery difficulties. Intracranial hemorrhage in infants is usually secondary to vascular malformations, anticoagulation, inherited or acquired coagulopathy. Hematological disorders are infrequently associated with congenital rubella. The main defects of the disease associate deafness, cataracts, congenital heart disease, microcephaly and mental retardation. Rubella remains a public health problem in developing countries, in which rubella immunization is not a part of the national immunization program. We report a preterm infant, born at 31 weeks of gestation, by caesarean section for fetal distress. Prenatal ultrasound showed intrauterine growth restriction with marked oligohydramnios. The mother reported pyrexia and rush in the first missed menstrual period. Maternal rubella status was unknown. At birth, clinical examination showed microcephaly, blueberry muffin rash, diffused ecchymoses, splenomegaly, jaundice, lethargy, hypotonia and mutisite bleeding. Laboratory tests showed severe thrombocytopenia at 8 x 109/L, prolonged prothrombin time, anemia at 10.2g/dL, and hyperbilirubinemia. Urgent cranial ultrasound showed epidural hematoma with mass effect on the underlying parietal lobe and the right lateral ventricle with mid-line shift (A). It also revealed hydropcephaly sequelae of prenatal intraventricular hemorrhage; with periventricular cysts and thalamic arteritis, signs of fetopathy (B). Congenital rubella syndrome diagnosis was confirmed by a positive test of specific anti-rubella immunoglobulins M. The outcome was poor with persistence of disseminated intravascular coagulation requiring multiple fresh frozen plasma and platelet transfusion. The infant died on the third day of life secondary to refractive hemorrhage.