Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly:A case report

BACKGROUND Holoprosencephaly(HPE)is a congenital malformation with various degrees of incomplete separation of the cerebral hemispheres due to differentiation disorders of the forebrain.Although HPE with diabetes insipidus due to associated pituitary dysfunction has been reported,HPE with the syndrome of inappropriate antidiuretic hormone secretion(SIADH)is very rare.Tolvaptan,a vasopressin V2 receptor antagonist,is effective in adults with SIADH.However,there is no report of its efficacy in infants with SIADH.The purpose of this report is to demonstrate that tolvaptan is effective for SIADH in infants and that administration of tolvaptan eliminates the need for restriction of water intake and sodium administration.CASE SUMMARY A 2414-g female infant was born at 38 wk by normal vaginal delivery.Facial anomalies and head magnetic resonance imaging indicated semilobar HPE.After birth,she had hyponatremia due to SIADH and was treated using water and sodium restriction.However,she developed an exaggerated response to the fluid restrictions,resulting in large fluctuations in serum sodium levels.Subsequent administration of tolvaptan improved the fluctuations in serum sodium levels without the need for adjustment of water or sodium administration.Serum sodium was maintained within the normal range after discontinuation of tolvaptan at 80 d of life.There were no side effects,such as hypernatremia or liver dysfunction,during the administration of tolvaptan.CONCLUSION This is the first report on the safety and efficacy of tolvaptan in an infant with SIADH associated with HPE.

Alobar Holoprosencephaly in a Neonate: A Rare Case Report and Review of the Literature

Holoprosencephaly (HPE) is a rare brain malformation with multiple etiologies and is often associated with suggestive facial anomalies. This pathology is the result of a defect in the early development of the forebrain. There are three clinical forms: lobar, semi-lobar, alobar and another milder subtype of HPE called middle interhemispheric. In this clinical case, we present a newborn with alobar holoprosencephaly and we highlight the clinical, radiological and progressive clinical aspects of this illness during the neonatal period.

Antenatal Sonographic Diagnosis of A Case of Alobar Holoprosencephaly: A Case Report

Holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. Herein we report an antenatal case of such patient. Patient was evaluated and because of the magnitude of the problem induction was done which led to a still born baby.

Alobar Holoprosencephaly with Duodenal Atresia: A Case Report

Introduction: Holoprosencephaly (HPE) is the most frequent malformation of the prosencephalon. It represents the absence or incomplete division of the prosencephalon during the 4th and 8th week of gestation. Its incidence is estimated to be 1 in 16,000 live births and 1 in 250 spontaneous abortions. According to the degree of cerebral involvements, it is classified into 3 types: alobar, semilobar, and lobar. Alobar is the most severe type. Duodenal atresia occurs in approximately 1:10,000 live births. It can be fatal unless diagnosed and surgically treated promptly. It is a less common cause of polyhydramnion. The diagnosis of duodenal obstruction may be suspected prior to the child’s birth by prenatal ultrasonography. The outcome of congenital duodenal obstructions, in terms of mortality rate, has improved over the last decades, mainly attributable to the improvement in the quality of prenatal diagnosis and neonatal intensive care. Embryological basis for etiology of duodenal atresia is thought to be due to errors of recanalization. Duodenal atresia is associated with other congenital anomalies in spite with holoprosencephaly. This is the only case (HPE with duodenal atresia) which is reported in Hasan Sadikin Hospital in the last five years. Materials and Methods: A patient G2P1A0 who had vaginal birth 6 years ago, without complication on mother and fetus was referred to Hasan Sadikin Hospital with abdominal discomfort as main complaint on her 33 - 34 weeks of pregnancy. Prenatal care was during the first and second trimester by midwife and sonography in satellite hospital. She had polyhydramnion and head abnormality and referred to Hasan Sadikin Hospital. Sonography examination showed alobar holoprosencephaly, abnormal facial (cleft lip and palate, absent nasal bone, hypotelorism), duodenal atresia and polyhydramnios (Amniotic Fluid Index 50 cm);other examinations were normal. Amnioreduction and karyotyping examination were done. After 3 weeks the amniotic fluid increased (Amniotic Fluid Index 45 cm) and the patient complaint recurrent abdominal discomfort, so second amnioreduction was done. Estimated fetal weight was 2500 gram, using Doppler examination umbilical arteries were in normal limits (pulsatility index = 1.08). Cesarean section on 38 weeks of pregnancy was done considering the abnormal head circumference and diameter as requested by the mother and the family. Results: The patient had poor prenatal care, late diagnosed congenital anomalies i.e. holoprosencephaly, facial anomaly and duodenal atresia. Fetal malformation might be clearly visible earlier if sonography examination on the first and second trimester was done appropriately, and mother and family were informed to choose the right action. Postnatal examination (MRI and USG) were not done. BNO examination revealed double bubble on the upper abdomen up to the left and right part. The baby was referred to the pediatric surgery with duodenal atresia and duodenostomy was planned. Genetic testing using conventional karyotype analysis ruled out aneuploidy of chromosomes 13, 18, 21, X and Y. No other risk factors such as smoking, alcohol, diabetes, infectious disease and drugs were before and during pregnancy. But she had bad environmental condition near a river with colored and bad smelled water from factory waste. </

Holoprosencephaly with Cyclopia and Proboscis in a Female Namibian Baby: A Case Report

We present a case of Holoprosencephaly (HPE) with cyclopia and proboscis that was delivered in Katutura Intermediate Hospital, Namibia. The mother was a 24-year-old, G2P1 with no known comorbid conditions and no history of illicit or over-the-counter drug use. Her first pregnancy was uneventful and resulted in delivery of a normal baby. She had not attended antenatal clinic by the time of her presentation with the index pregnancy and the abnormality was picked up from the booking sonar. She went into spontaneous preterm labour and delivery before the planned date for admission for termination of pregnancy and physical examination of the baby confirmed the diagnosis of Holoprosencephaly with cyclopia. The pictures presented in this article were taken after obtaining parental consent.