Gaurav Pradhan

Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis

Pycnodysostosis (OMIM # 265800) is an inherited lysosomal disorder due to affection of cathepsin K gene, localised to 1q21. Pycnodysostosis can present with both skeletal and extraskeletal features. The index patient presented with cardinal features of short stature, dental and digital anomalies with history of multiple fractures. He, in addition had an unreported finding of white matter hyperintensity suggesting dysmyelination on neuroimaging. Molecular analysis revealed a homozygous insertion of single nucleotide in exon 5 of the CTSK gene that produces the substitution of phenylalanine instead of leucine at position 160 of protein and a premature termination of protein synthesis due to insertion of a stop codon. This mutation (c.480_481insT), (p.L160fsX173) is a novel frameshift mutation. The index case extends the phenotypic spectrum and the list of previously reported mutations in the CTSK gene.

Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases.

We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presence of essentially normal clavicles. DNA sequencing of the RUNX2 gene detected a novel nonsense mutation in exon1 (c.166C>T; p.Q56X) in its glutamine-alanine (Q/A) repeat domain. The genotypes of all published cases of CCD with normal clavicles were reviewed. Additional dental and otolaryngological features were enlisted. Three cases with a milder dental phenotype and normal clavicles were associated with a mutation in the Q/A domain. Collectively, we found a novel CCD-causing nonsense mutation p.Q56X in the Q/A domain of the RUNX2 gene.

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.

The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

Scoliotic deformity and asymptomatic cervical syrinx in a 9 year old with caudal regression syndrome

We report late presentation of caudal regression syndrome in a 9 year old presenting with a scoliotic deformity. She in addition had an asymptomatic cervical syrinx and vitiligo. We discuss the reasons for this unusual constellation of symptomatology present in our case.

MDCT imaging of the stomach: advances and applications

The stomach may be involved by a myriad of pathologies ranging from benign aetiologies like inflammation to malignant aetiologies like carcinoma or lymphoma. Multidetector CT (MDCT) of the stomach is the first-line imaging for patients with suspected gastric pathologies. Conventionally, CT imaging had the advantage of simultaneous detection of the mural and extramural disease extent, but advances in MDCT have allowed mucosal assessment by virtual endoscopy (VE). Also, better three-dimensional (3D) post-processing techniques have enabled more robust and accurate pre-operative planning in patients undergoing gastrectomy and even predict the response to surgery for patients undergoing laparoscopic sleeve gastrectomy for weight loss. The ability of CT to obtain stomach volume (for bariatric surgery patients) and 3D VE images depends on various patient and protocol factors that are important for a radiologist to understand. We review the appropriate CT imaging protocol in the patients with suspected gastric pathologies and highlight the imaging pearls of various gastric pathologies on CT and VE.

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation

Craniofrontonasal syndrome (CFNS; OMIM # 304110) is a rare X-linked disorder with greater severity in heterozygous females than in hemizygous males. CFNS is characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, downslant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton. There are very few cases describing association of CFNS with heart defects. We discuss a very rare feature: atrial septal defect in a molecularly confirmed case of CFNS.

Cartilage hair hypoplasia and celiac disease: Report of an Indian girl with novel genotype

Cartilage hair hypoplasia is a genetic disease, characterized by generalized metaphyseal dysplasia mainly affecting the knee joints. Variable extraskeletal features like anemia, malabsorption, impaired spermatogenesis, impaired immunity, and malignancies have been reported. The work up of malabsorption and short stature led to the diagnosis of celiac disease in three previous cases of cartilage hair hypoplasia. Here, we report an Indian girl with a novel genotype, diagnosed as celiac disease with cartilage hair hypoplasia, and review the previous three cases.

An analysis of deep vein thrombosis in burn patients (part II): A randomized and controlled study of thrombo-prophylaxis with low molecular weight heparin

INTRODUCTION Morbidity and mortality from venous thrombo-embolism (VTE) remains a significant problem for trauma and medical patients and there are established guidelines for prophylaxis in these patients. However, the efficacy and safety of VTE prophylaxis in thermally injured patients continue to be elusive as it has never been studied in a prospective, randomized fashion. Selective use of VTE prophylaxis, for high risk patients, is practiced by some burn units even if objective evidence is lacking for majority of risk factors enunciated in burn patients. Differing demographics and wound management techniques are other confounding factors mandating more prospective studies to evaluate the need and role of chemoprophylaxis for deep vein thrombosis (DVT) prevention in burn patients. Ours is the first prospective, randomized, controlled study which seeks to identify risk factors for DVT in our patients, and evaluate the role of routine chemoprophylaxis and its complications. METHODS The study design (sample size, inclusion/exclusion criteria, randomization, methodology and statistical methods) is detailed in part-1 of this two part manuscript. RESULTS Doppler ultrasound (DUS) identified DVT in four out of 50 patients (8% incidence) forming the control group. DVT was not detected in any of the patients on prophylaxis (0% incidence). This difference was found to be statistically significant (p value-0.021). Patients with DVT had significantly higher %TBSA, prolonged immobility and a longer duration of stay as compared to patients without DVT in the control group. Only one patient on enoxaparin prophylaxis developed mild epistaxis which resolved spontaneously. Fifteen patients died during the study out of which two had DVT but none showed autopsy evidence of pulmonary embolism. CONCLUSION With a moderate risk of developing DVT (8%) and a complication rate of only 2% with chemoprophylaxis, we feel that routine prophylaxis has the potential to decrease the incidence of VTE, without associated complications, in the moderate to high risk category.

A Report of an Indian Boy with a Delayed Diagnosis of Pseudochondroplasia

THE MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) GENE ARE ASSOCIATED TWO COMMON AND ALLELIC BONY DYSPLASIAS: Psuedoachondroplasia (PSACH) and Multiple epiphyseal dysplasias-1 (MED-1). The characteristic radiological features of both has been well established in the literature, with areas of overlap between the two in certain forms of mild PSACH and severe MED. MED is also a genotypically and a phenotypically heterogeneous disease. Here, we emphasise the salient radiological features which aid in the diagnosis of PSACH and COMP MED; which may enable a targeted molecular analysis.

Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence

Spondylocarpotarsal synostosis syndrome (SSS) is an autosomal recessive condition which is characterized by short stature, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly. We are presenting a 7- year- old boy, who had uroliathiasis with the spondylocarpotarsal synostosis syndrome. This association, to the best of our knowledge, has not been reported so far.