Waardenburg syndrome: a rare genetic disorder in four generations of a family

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.

Transient leukaemia of Down syndrome in a neonate: case report

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.

Sirenomelia, the Mermaid syndrome: a case report

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 upper limb thrombosis: an unusual presentation

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.