Fraser syndrome with partial anomalous pulmonary venous connection.

Fraser syndrome is characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. We report a case of a two day old neonate who presented with features suggestive of the diagnosis of Fraser syndrome. This child also had partial anomalous pulmonary venous connection and congenital hypo-thyroidism.

Pulmonary alveolar microlithiasis in siblings.

We report two cases of pulmonary alveolar microlithiasis (PAM) in siblings. The male child was diagnosed initially and family screening led to the diagnosis of the asymptomatic sister. The diagnosis was confirmed by high resolution computed tomography (HRCT) and bone scintigraphy which demonstrated the calcific nature of the lesions. We emphasize the importance of family screening of PAM index cases to detect the disease in the early, asymptomatic stage.

Splenic abscess as a complication of enteric fever.

A rare and unrecognized complication of enteric fever is splenic abscess. We report two cases of childhood enteric fever complicated by splenic abscess (one solitary and the other multiple).

Plasmodium vivax cerebral malaria.

We report two cases of Plasmodium vivax malaria (both aged 12 years) complicated by seizures and symptoms of diffuse meningoencephalitis. One had predominantly meningeal signs while in the other, purely encephalitis features were present. Both cases were treated with artesunate. Rarely, cerebral malaria is a presenting complication or occurs during the course of P. vivax infection.

PHACES syndrome with congenital hypothyroidism.

The acronym PHACE syndrome stands for Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities, Sternal clefting and/or a supraumbilical raphe. We report a 20 day old neonate who presented with a large facial hemangioma and Dandy-Walker cyst. This case is unusual because the cyst was detected antenatally and there was associated congenital hypothyroidism, which has been described very rarely with this condition.

Difficulties in the diagnosis of Kawasaki disease.

This study aims to highlight the difficulties faced in the clinical diagnosis of Kawasaki Disease (KD) presenting beyond the first week. This is a retrospective study of 25 cases of which only 36% met the criteria for classical and 8% was incomplete KD. Majority (56%) did not meet the criteria for classical KD; at the same time they were not incomplete / atypical cases. Difficulties arise in diagnosis of the cases presenting in the second week, as by that time many of the classical findings disappear or probably have not been present at all. In this scenario high index of suspicion for KD in a child presenting with fever, looking not that sick (Non toxic look) with bulbar conjunctivitis and oral mucositis helped us to reach the diagnosis. We incidentally observed Hyperemia of the Upper Eyelids in 32% of our cases, which might assist in the diagnosis.

Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.