Dhara B. Dhaulakhandi

Macrodystrophia lipomatosa involving multiple nerves

Macrodystrophia lipomatosa (MDL), a rare congenital disorder, is considered by some to be a localized form of Proteus syndrome. The implication of the PTEN (phosphatase and tensin homolog deleted on chromosome 10) gene in both strengthens this belief. We present a case who had MDL in multiple nerve territories—all on the same side of the body—with hypertrophy of mainly fibroadipose tissue throughout their distribution, thus pointing to a form of localized hemihypertrophy; both hemihypertrophy and lipomatous tumors are components of Proteus syndrome.

Lipoma of Guyon's canal causing ulnar neuropathy.

Lipoma is a benign soft tissue tumor which rarely causes neuropathy. In closed compartments such as Guyon’s canal, even small volume loss can lead to compression of nerve. Hence in such areas, even innocuous tumors such as lipomas can cause neuropathy and warrant surgery. We present one such case of ulnar neuropathy caused by lipoma of Guyon’s canal.

Neural Tube Defects: Review of Experimental Evidence on Stem Cell Therapy and Newer Treatment Options

The failure of closure of the neural tube during development leads to malformations called neural tube defects (NTDs). The most common neural malformations in humans include anencephaly, encephalocele, exencephaly, craniorachischisis spina bifida with or without myelomeningocele, lipomyeloschisis, lipomyelomeningocele, meningocele and myelocystocele. Current preventive strategies are mainly based on pharmacologic/folic acid supplementation. However, stem cell-based and other combination approaches may emerge as potential treatment options for NTDs. This review provides an account of experimental evidence on stem cell therapy and newer treatment options for NTDs which have become available in recent years.

Thoracic kidney associated with congenital diaphragmatic hernia

We report three cases of ectopic thoracic (or superior ectopic) kidney; one in a neonate and two in 6‐month‐old children, associated with congenital diaphragmatic hernia. In all cases the diagnosis was made during surgery and confirmed by intravenous pyelography, sonography and magnetic resonance imaging in the postoperative period. Because of the rarity of this condition we report these cases together with a wide review of the published reports.

Hepatic visceral larva migrans

Visceral larva migrans (VLM) is a systemic manifestation of migration of second stage larvae of nematodes through the tissue of human viscera. It is not uncommon but is underdiagnosed in developing countries. The liver is the most common organ to be involved due to its portal venous blood supply. The imaging findings are subtle and differentiation from hepatocellular carcinoma (HCC), metastases, cystic mesenchymal hamartoma and granulomatous diseases is difficult. This case report highlights the imaging features of hepatic lesions of VLM along with clinical and laboratory data which help in clinching the diagnosis.

Favorable Obstetric Outcome in a Fetus Diagnosed With Umbilical Vein Varix at 22 Weeks' Gestation

Umbilical vein varix (UVV) is a rare diagnosis during early gestation, and most cases diagnosed early have a poor obstetric outcome. We report a case of intraabdominal extrahepatic UVV diagnosed at 22 weeks of gestation by ultrasonography, with a favorable obstetric outcome. This case shows that early diagnosis of UVV during pregnancy does not necessarily correlate with poor outcome. Pregnancy termination is thus not the only option, and an affected pregnancy can be carried to term under close monitoring if there are no other associated anomalies. Variceal dilatation of the umbilical vein is rare and accounts for approximately 4% of malformations of the umbilical cord [1]. UVV has been defined variously; Sepulveda et al [2] defined fetal intra-abdominal UVV (FIUVV) as an intra-abdominal umbilical vein diameter at least 1.5 times greater than the diameter of the intrahepatic umbilical vein, while Allen et al [3] defined the anomaly as an intra-abdominal umbilical vein diameter exceeding 9 mm. Syphilis, degenerative changes, decreased resistance due to icterus, and congenital thinning have been proposed as etiologies of FIUVV. The most likely etiology and the only pathologic finding in most cases is thinning of the vessel wall near the anterior abdominal wall due to intrinsic weakness of the umbilical vein wall [4]. FIUVV is associated with a fetal death rate of up to 44%, and with karyotype abnormalities in 12% of cases (trisomy 21, 18 and 9, and triploidy 69,XXX). Structural malformations and hydrops fetalis have been diagnosed in up to 35% of cases each [2,5,6]. Our case of UVV is unique in having a favorable obstetric outcome, despite being diagnosed at an early gestational age of 22 weeks. A 24-year-old primigravida attended a routine antenatal ultrasound at 22 weeks of gestation. A cystic structure (15 × 14 mm) was detected in the fetal abdomen, just beneath the abdominal wall at the level of liver (Figure A). Color Doppler examination revealed it to be vascular in nature with the umbilical vein leading to it, suggesting a diagnosis of extrahepatic FIUVV (Figure B). Doppler examination allowed differentiation of UVV from other cystic lesions, including choledochal cyst, liver cyst, urachal cyst and mesenteric cyst. A careful scan failed to detect any other associated anomalies. Fortnightly ultrasound scans were performed to monitor growth of the fetus until 34 weeks’ gestation. During this period, there was no change in the size of the cyst. The patient was temporarily lost to follow-up. She was then reported again after a normal term delivery by a trained nurse at home. The perinatal period was uneventful. There was no family history of any similar anomaly or any features of isoimmunization. Because of the absence of any associated anomalies, karyotyping was not performed. Ultrasound examination at 3 months was normal. The child was healthy after 1 year. UVV presents in approximately 4% of malformations of the umbilical cord [1], and is more common in the umbilical cord than in the fetus [7]. In intraabdominal UVVs, extrahepatic varices are more common than intrahepatic ones [6]. Approximately 100 cases have been reported in the

An unusual case of bilateral reversible blindness in a child: Crucial role of imaging

Sphenoid sinusitis is an unusual cause of blindness and may go undetected if the sinusitis is otherwise asymptomatic. Radiological studies can play a very crucial role in the diagnosis of such cases. Here we present one such case where radiologic diagnosis was critical to determining the treatment plan. A 12-year-boy developed sudden blindness and right sided hemiparesis one week after the episode of fever. Imaging studies attributed his symptoms to acute sphenoiditis and thrombus in cerebral veins. Early institution of proper medical treatment based on correct radiological diagnosis led to reversal of his symptoms within two days.

Structural and functional analysis of CRISP3 protein in relation to diseases of exocrine pancreas

Introduction: Human cysteine rich secretory protein 3 (CRISP3), also known as specific granule protein (SGP28) is a small 28kDa protein. CRISP-3 is widely expressed in salivary glands, pancreas (particularly in pancreatic disease), lachrymal glands, prostate, myeloid precursors, human epididymis, ovary, thymus and colon. Human CRISP3 share similarity with snake venoms as well as Glioma Pathogenesis Related protein GLIPR1. Here we are reporting the extent of alignment of human CRISP3 protein with pancreatic enzymes and snake venom proteins and presence of GLIPR1 and CRISP3 genes containing conserved GHYTQVVW motifs in clinical samples of pancreatitis and pancreatic cancer. Material and Methods: Protein sequences with accession numbers for Human CRISP3, Snake Venom and enzymes present in pancreatic juices i.e. Trypsinogen, Cathepsin, Lipase, Amylase and Elastase were retrieved from swissprot, protein database. These sequences were aligned in silico for demonstrating the presence of 16 conserved cysteine residues and other motifs i.e. GENL and GHYTQVVW. The multiple sequence alignment (MSA) was performed. Presence of CRISP-3 conserved motifs in clinical samples of pancreatitis and pancreatic cancer was evaluated by PCR. DNA extracted from a small piece taken from inflamed pancreatic tail biopsy with confirmed diagnosis for pancreatitis and an excised pancreatic cancer tissue was subjected to PCR to conform presence of CRISP3 and GLIPR1 genes. Results: Our results show conservation of 9 Cysteine residues out of 16 Cysteine residues in majority of pancreatic enzymes and notable conservation of GENL and GHYTQVVW motifs across snake venom proteins. PCR yielded desired amplicon of expected size with the primers spanning conserved residues and core consensus motifs specifically designed to amplify CRISP3 gene in clinical samples of pancreatitis and pancreatic cancer. We also detected presence of GLIPR1 gene sequence in the DNA extracted from clinical samples of pancreatitis and pancreatic cancer thus confirming similarity between the pathogenesis related protein and CRISP3. Conclusion: Notable conservation of cysteine residues across pancreatic enzymes, snake venom and Human CRISP3 opens avenues of further research to evaluate the likely clinical potential of the conserved residues as putative biomarkers in exocrine pancreatic diseases. To the best of our knowledge this is the first report where primers designed around conserved GHYTQVVW motifs to amplify CRISP3 gene and its structural similarity with GLIPR1 gene sequence in clinical samples of pancreatitis and pancreatic cancer has been validated.

Neurocysticercosis presenting as central diabetes insipidus in a boy

Neurocysticercosis (NCC) is known to have varied presentations ranging from simple psychosis to stroke and death. While NCC may affect any part of brain or spinal cord, endocrinopathies due to NCC involving hypothalamus and pituitary gland are very rare. A 7-year-old child presented with polyuria and polydipsia for 1 year. After ruling out peripheral diabetes insipidus, a magnetic resonance imaging scan of the brain was done which showed a small cystic lesion in the proximal pituitary stalk. Similar cystic lesions were also seen in other areas of the brain. Cerebrospinal fluid enzyme linked immunosorbent assay for cysticercosis was positive. Such a case of NCC involving pituitary stalk and presenting as central diabetes insipidus is, to the best of our knowledge, the first report of both the location and clinical presentation of NCC in children.

Fungal CNS infection in a term neonate: Can a radiologist help with diagnosis?

Brain abscesses can be bacterial or fungal. It is usually difficult to distinguish between the two clinically as well as radiologically. However, careful scrutiny of the radiological images for subtle radiological signs and proper analysis of serial images can help in narrowing down the diagnosis and preventing delay in specific treatment. We report an infant who initially presented with a small parietal hemorrhage and subsequently evolved into multiple brain abscesses. Since fungi and not bacteria are preferentially known to invade blood vessels, the infant had a radiological diagnosis of fungal abscess in the brain. Although the cerebrespinal fluid did not grow any fungal micro-organism, the infant clinically improved after the administration of anti-fungal antibiotics. Blood and urine cultures later grew Candida albicans.