Multiple neural tube defects may not be very rare.

BACKGROUND: Multiple neural tube defects (MNTDs) are a rare occurrence. Although the clinical incidence is small, MNTDs raise some interesting embryological queries. AIM: This study aims to investigate the morphological and clinical variations observed in neonates presenting with multiple neural tube defects and associated central nervous system anomalies. MATERIALS AND METHODS: This is a prospective study carried out at our institute to assess clinical and morphological variation in patients presenting with multiple neural tube defects. RESULTS: Among the 263 patients with a neural tube defect, who presented to our outpatient department and emergency departments, only 10 cases of MNTDs were identified. Thus, incidence of MNTDs in the cohort of patients affected with NTD was 0.038 %. Among the 10 patients, 9 had double neural tube defects and 1 patient had three neural tube defects. CONCLUSIONS: Multiple neural tube defects may not be very rare in the general population, especially the populations with high incidence of neural tube defects. Multisite closure theory has the versatility to explain various combinations of neural tube defects, but better insights into the molecular pathways governing this tightly regulated process can provide us the missing link in establishing the pathogenesis of multiple NTDs. It can also provide us with an opportunity to prevent NTDs or treat them in utero by pharmacological modulation of these signaling pathways.

Spontaneous intestinal perforation.

Neonatal necrotizing enterocolitis, the most common gastrointestinal emergency in neonates, typically affects the preterm infants and carries high mortality. Classic clinical trad consists of abdominal distension, bloody stools, and pneumatosis intestinalis. Occasionally, signs and symptoms may not be classic and a number of papers have highlighted the difficulty of relying on radiological features to make a definitive diagnosis of necrotising enterocolitis. We report herein a case of neonate referred to us as a case of obstructed inguinal hernia and was diagnosed as a necrotizing enterocolitis perforation revealed by a rare manifestation of pneumoscrotum.

Extraadrenal pheochromocytoma with renal artery "pseudostenosis"-an important pitfall.

Pheochromocytoma and renal artery stenosis are two common causes of surgically correctable childhood hypertension that may coexist. We describe a case of extraadrenal pheochromocytoma with left upper polar renal artery pseudostenosis. The tumor was excised, preserving the accessory renal artery and kidney. The child was normotensive and did not require drugs postoperatively. Radiologic appearance of stenosis does not necessarily mean fixed renal artery stenosis, especially with a pheochromocytoma because it may exist as a result of vasospastic effects of the pheochromocytoma. Incorrect diagnosis may result in untoward risk and unnecessary procedures for the patient, hence the need to remember this pitfall.

Novel association of multiple gastrointestinal anomalies in a single patient: can Sonic Hedgehog explain it?

The occurrence of four gastrointestinal (GIT) anomalies in a single patient is extremely rare. Only one report of four GIT anomalies in a child has been published in the English literature. The current report presents a child with four anomalies and discusses the molecular mechanisms which control the development of the gastrointestinal tract.