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Carnitine palmitoyltransferase II (CPTII) deficiency is a rare disorder of mitochondrial fatty acid oxidation with autosomal recessive mode of inheritance. Three classic forms of CPT II deficiency have been described namely the lethal neonatal form, severe infantile hepatocardiomuscular form and the myopathic form. We present a three-day-old female child, admitted to us for lethargy, icterus, low sugars and convulsions. Persistent non ketotic hypoglycaemia, hyperammonemia, raised liver enzymes with hepatomegaly and cardiomyopathy led to the suspicion of fatty acid oxidation defect. Tandem mass spectrometry helped to clinch the diagnosis of CPT II Deficiency in the present case.

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.

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