Sirenomelia, also known as mermaid syndrome, is a rare congenital anomaly characterized by a single lower extremity which is associated with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems. It is sporadic with no increased risk in subsequent pregnancies. In almost all the cases of sirenomelia, a single umbilical artery (SUA) is present which arises from the abdominal aorta. The exact etiology of sirenomelia is unknown. Sirenomelia can be confidently diagnosed in the 1st trimester while the diagnosis in the 2nd and 3rd trimesters is difficult due to the lack of amniotic fluid in the later gestation. Antenatal diagnosis of this universally lethal condition is desirable so that possible termination of pregnancy can be offered at the earliest.

Intrauterine thrombosis with extremity ischemia presenting at birth in a newborn is a rare event. A 29 year old mother, 2nd gravida with one first trimester spontaneous abortion delivered a 33week gestation male preterm baby. On Examination, the entire left upper limb was ischemic and edematous with an absent flow on Doppler USG. Low molecular weight heparin (LMWH) was started after which gradually the limb turned pink with good volume pulsations. Thrombophilia mutation studies revealed the heterozygous state for the MTHFR (C677T) mutation only in the mother. Prompt diagnosis and early treatment has a favourable outcome in cases of intra-uterine thrombo-embolism.

Waardenburg Syndrome (WS) is a rare autosomal dominant disorder manifesting with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest derived tissues. A primigravida mother delivered a full term, appropriate for gestational age, 2530 gm female child, by emergency LSCS. Baby was admitted in the NICU in view of features suggestive of Waardenburg syndrome, like white forelock of hair, broad nasal root and hypopigmented patches on the skin for further work up and management. Several members in the family were affected in the last 4 consecutive generations. Our baby was feeding well and discharged home after an uneventful hospital stay. Early diagnosis, detection of findings of hearing loss and the characteristic ophthalmic findings as well as regular follow up is necessary to enable the patient to lead a better quality of life.

Background: Authors objective was to study the incidence and risk factors for meningitis in neonates with clinical suspicion of sepsis in Neonatal Intensive Care Unit (NICU) of tertiary care hospital of Mumbai, India.Methods: This descriptive observational study enrolled Consecutive 92 patients of either sex with suspected neonatal sepsis admitted in NICU of Tertiary Care Hospital. All neonates admitted to NICU with clinical suspicion of sepsis or developing signs of sepsis during NICU stay were included in study. Exclusion criteria were 1.Neonates with hemodynamic instability 2.major congenital malformations 3.contraindication or no willingness for Lumber puncture (LP ) 4.neonates who have received intravenous antibiotics for more than 24 hours elsewhere.Standard data collection form was used to collect all demographic data and clinical characteristics of neonates.Results: Incidence of meningitis in study population was 7.6%. Cases of meningitis in study population had mean birth weight 1.91 kg, 71.43% were preterm, 57.14% vaginaly delivered, 42.86% by LSCS, Premature rupture of membrane (PROM) observed in 28.57% cases. Meconium stained liquor in 42.86% cases and foul smelling liquor in 28.57% cases observed. 42.86% cases required resuscitation and 28.57% received surfactant therapy. Poor feeding (100%), lethargy (85.71%), weak cry (85.71%) and tachypnea (50.58%). Retractions (85.71%), Grunting (57.14%) and Nasal flaring (42.86%) were clinical presentation. Lab findings in a case of meningitis: mean Hemoglobin (Hb) 15.22 gm%, Leukopenia (28.57%), Leukocytosis 28.57%, Absolute Neutrophil count (ANC) <1800 (28.57%), Thrombocytopenia 42.85%, blood culture positive (28.57%) hypoglycemia (28.57%), CSF white cell count (124.57cells/ml.), mean CSF protein level (60 mg/dl.) Mean CSF glucose level (40.86 mg/dl.) CSF culture was positive in two cases of meningitis.Conclusions: Authors study highlights the diagnostic utility of routine lumbar puncture in neonates with clinically suspected sepsis.

A 30 year old elderly primigravida, married since 13 years with no history of abortions and consanguinity, delivered vaginally a 1.6 kg, 32 week preterm female baby. Baby had normal APGAR score at birth and was admitted in NICU for prematurity and low birth weight. Our patient had characteristic DS facies with bilateral pre-auricular tags without organomegaly ( Figure 1). Investigations done on the 3rd day of life revealed a total ABSTRACT Transient leukemia of Down syndrome(TL-DS) or transient myeloproliferative disorder (TMD) or transient abnormal myelopoiesis (TAM) is a hematologic abnormality characterized by an uncontrolled proliferation of myeloblasts in peripheral blood and bone marrow which characteristically affects newborns and babies with Down syndrome. Children with Down syndrome (Trisomy 21) have a unique predisposition to develop myeloid leukemia of Down syndrome(ML-DS). In majority of cases of TL-DS, the GATA1 mutant clone goes into spontaneous remission without the need for chemotherapy. However, 10-20 % of neonates with TL-DS and silent TL-DS subsequently develop ML-DS in the first 5 years of life due to additional oncogenic mutations acquired by the persistent GATA1 mutant cells. We present here, one such case of Down syndrome with TL-DS in a neonate.