A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.

Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.

Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A1, is a rare and autosomal recessive inherited disorder characterized by severe unconjugated nonhemolytic hyperbilirubinemia since birth. We present a girl with CNS type I caused by a novel mutation and Gilbert type genetic defect. Gilbert's Syndrome (GS) and CNS type I both involve abnormalities in bilirubin conjugation secondary to deficiency of bilirubin UGT. The combined defects even in benign genetic forms were shown to cause more serious clinical disease. The patient has been treated with daily home-based phototherapy for more than nine months and considered as a candidate for liver transplantation.

Severe postnatal cytomegalovirus infection with multisystem involvement in an extremely low birth weight infant.

Cytomegalovirus (CMV) infection is the most common intrauterine and perinatal viral infection. Postnatal CMV infection is acquired mainly from breast milk and may cause severe illness in preterm infants. We report an extremely low birth weight infant who presented with a sepsis-like syndrome and multiple organ involvement, notably hepatitis and pneumonitis, and treated with ganciclovir without adverse effect or relapse.

Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.

The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia.

The impact of individual room on rehospitalization and health service utilization in preterms after discharge.

AIM: To compare individual room implemented family-centred care to classical designed neonatal intensive care unit and find out its effect on rehospitalization and application to health services in preterm infants after discharge. METHODS: Mothers whose infants were born before 34 gestational weeks and hospitalized for at least one week in the NICU were enrolled in the study. Mothers who were hospitalized with their preterm infants in individual rooms (Group I) were compared with mothers who were not hospitalized with their preterm infants (Group II). After the third postdischarge month, groups were compared for their rates of phone consultations to physician/hospital, acute care applications, rehospitalization and parent's perception of child's vulnerability. RESULTS: Although demographic and medical information did not indicate any differences between the groups, the mean number of acute care visits (p = 0.046), the median number of phone consultations (p = 0.001) and rehospitalization rate (12.9% vs. 34.5%, p < 0.05) were significantly higher in Group II. The anatomical problems, such as inguinal hernia and retinopathy of prematurity, were the main recorded causes in Group I whereas problems related to prematurity like feeding difficulties were dominating in Group II. CONCLUSION: The availability of individual rooms that allows maternal presence and participation during the hospitalization of the mother's preterm infant, is correlated with lower rates of rehospitalization and healthcare applications.

Congenital early onset isolated adrenocorticotropin deficiency associated with a TPIT gene mutation.

TPIT is a highly cell-restricted transcription factor that is required for the expression of the propiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary ACTH. We present a neonate with the diagnosis of congenital early onset isolated ACTH deficiency (IAD) associated with a loss of POMC function as a result of a missense mutation in the TPIT gene. A 5 day-old male infant was admitted for hypoglycemia, limpness and conjugated hyperbilirubinemia. Laboratory investigations indicated low plasma cortisol concentration (0.1 microg/dl) accompanying a very low ACTH (<5 pg/ml) concentration. An increase in plasma cortisol concentration following stimulation with low dose exogenous ACTH was observed. On replacement therapy with hydrocortisone (15 mg/m2/day orally), cholestatic jaundice and hypoglycemia resolved and subsequent normal growth (weight, height and head circumference, 25th, 10th and 50th percentile, respectively) and development was achieved without recurrence of hypoglycemic episodes.

Management of central diabetes insipidus with oral desmopressin in a premature neonate.

The effect of oral administration of desmopressin (DDAVP) solution was investigated in a very low birth weight premature infant with central diabetes insipidus that was associated with grade four germinal matrix hemorrhage. As an alternative to the nasal route, long-term successful management resulting in favorable growth and development during infancy was achieved using the oral route.

Acute rheumatic fever with three major criteria: polyarthritis, carditis and chorea. A case report.

An eight-year-old girl is presented with three major criteria of acute rheumatic fever: polyarthritis, carditis and chorea. The diagnosis was confirmed with a history of pharyngitis 15 days prior to admission and with the findings of positive acute phase reactants such as elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), elevated anti-streptolysin-O (ASO) titration, and clinical findings of polyarthritis, carditis and chorea. Patient responded well to salicylate and phenobarbital treatment. The rare association of these three major criteria in acute rheumatic fever is emphasized.