Non-immune hydrops fetalis: a case series

Hydrops fetalis is a clinical condition characterized by pathological fluid accumulation in soft tissues and serous cavities of the fetus like peritoneal cavity, pleural cavity, pericardial space, and body wall edema. Hydrops fetalis is broadly classified into Immune Hydrops Fetalis (IHF) and Non-Immune Hydrops Fetalis (NIHF). Incidence of immune hydrops fetalis due to Erythroblastosis fetalis secondary to Rh Iso-immunisation has drastically reduced due to widespread use of anti-D immunoglobulin. In the last few decades, the majority of cases are identified as non-immune hydrops. It is important to determine the cause of the hydrops fetalis in order to administer optimal management of the neonate at birth. Despite recent advances the mortality of non-immune hydrops is still high. Authors report here six cases of non-immune hydrops fetalis encountered at our tertiary care hospital over last three years.

Turner syndrome in a neonate

Turner's syndrome (TS) is the common chromosomal abnormality. However, it is diagnosed rarely in the neonatal period. In many cases the diagnosis of TS may be delayed until childhood, when evaluation for short stature yields the diagnosis, or adolescence, when combination of growth failure and pubertal delay suggests the possibility of TS. Girls with TS are usually treated with growth hormone and oestrogen replacement therapies for short stature and oestrogen deficiency. A multidisciplinary team is usually required for management. Authors report an 11 day old infant who was diagnosed as Turner's syndrome. The classic clinical feature, lymphoedema clinched the diagnosis in our case which was confirmed by chromosomal analysis. The infant was discharged and asked to follow up for regular growth monitoring and parents were counselled regarding the condition.

Congenital chylothorax: a rare entity

Pleural effusions in a neonate are generally congenital in about one third of the cases and acquired in the remaining two thirds. Congenital isolated pleural effusion is rare. It has an incidence of approximately 1 in 12000 to 1 in 15000 pregnancies. Chylothorax is the most common cause of neonatal congenital pleural effusion. Incidence of congenital chylothorax is 1 in 8600 to 1 in 10000 deliveries with a male to female ratio of 2:1. It poses both a diagnostic as well as therapeutic challenge to the neonatologist. Authors hereby present a rare case of congenital chylothorax which was medically managed and discharged. The neonate responded well to octreotide and medium chain triglyceride (MCT)-diet and was discharged without any complications.

Bladder exstrophy with inguinal hernia: a case report

Exstrophy of urinary bladder with epispadias involves protrusion of the urinary bladder through a defect in the lower abdominal wall accompanied by separation of pubic symphysis. It is a rare but challenging condition that causes significant physical, functional, social, sexual and psychological problems later in life. Bladder exstrophy commonly involves males and most cases are sporadic.' Inguinal hernia is a complication associated with bladder exstrophy and it occurs due to lack of obliquity of the inguinal canal secondary to pubic diastasis.' Authors report here, a case of antenatally diagnosed case of classic bladder exstrophy associated with left sided inguinal hernia which was incidentally diagnosed on tenth day of life. Our neonate underwent primary bladder closure with herniotomy. Staged reconstruction of epispadias and bladder neck has been planned at a later date. Recurrence of inguinal hernia after repair is common and bilateral inguinal exploration while performing herniotomy is advised to prevent its recurrence. Prognosis of such cases depends on the degree of continence achieved. With timely reconstructive surgery, continence rates can be as high as 60-70 percent.

Amniotic band syndrome: a case series

Amniotic band syndrome (ABS) is a rare congenital disorder which involves fetal entrapment in strands of amniotic tissue, which can manifest as constriction rings, limb and digital amputations or complex congenital anomalies and sometimes results in stillbirth. Etiopathogenesis is varied and ABS can be associated with syndromes. Antenatal diagnosis is made by ultrasonography in most cases. Postnatal examination reveals constrictions, amputations and craniofacial or abdominal wall defects. Treatment is case based and surgical intervention is required to release constriction rings. Authors report here six cases (one stillbirth and five live births) of amniotic band syndrome that were encountered over the last one and half years.

Partial trisomy 15: a rare occurrence

Partial trisomy 15q is a very rare entity and most of them are characterized by duplication of regions 15q21-15q26.3. This duplication is frequently associated with deletions in another chromosome resulting in unbalanced translocations. Authors report here, a rare case of partial trisomy 15, with breakpoints between 15q11.1 to q23, probably the first reported case with these breakpoints. Irrespective of the breakpoints, the phenotypic features are consistent in all affected cases and predominantly consist of craniofacial anomalies. In addition, finger abnormalities, very short neck, skeletal malformations and congenital heart disease may be present. Our neonate had typical dysmorphic features of arachnocamptodactyly, narrow face, large prominent, nose with broad nasal bridge, long philtrum, pointed chin, short neck, and low set deformed ears.' Neonates' cytogenetic analysis revealed additional chromosomal material on the long arm of the chromosome 15 from q11.1 to q23.1, which was suggestive of partial trisomy of chromosome 15. Most cases reported have had a stormy clinical course, however, our proband had only mild respiratory distress at birth and she was discharged in a few days.

Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.