Radiological feature of colonic atresia

Colonic atresia and stenosis are rare causes of intestinal obstruction in the infant. Only 10 cases have been reported in Literature since 1966 and only one late-onset case has been reported in Literature until now. We describe the case of a 3 day old baby presenting with abdominal distension, failure to pass meconium and vomiting. X-ray of the abdomen showed dilated gut loops. Exploratory laparotomy was performed. At the junction of descending and sigmoid colon a stenosis was found, laparotomy also revealed a perforation of transverse colon. Transverse colostomy and a mucous fistula of sigmoid colon was performed after resecting stenosing segment and colon distal to perforation site upto stenosing site. Diagnosis was confirmed on histopathology. Colostomy was close after six weaks with uneventful recovery. Considering both the Literature and our case, congenital colonic stenosis should be considered one of the rare differential diagnoses in a neonate presenting as complete or partial intestinal obstruction. Key words: Colonic Stenosis; Perforation; Obstruction DOI: http://dx.doi.org/10.3126/jnps.v32i1.5446 J. Nepal Paediatr. Soc. Vol.32(1) 2012 73-75

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Clinical and radiological feature of lymphoepithelial cyst of the pancreas

World Journal of Gastroenterology ◽

10.3748/wjg.v20.i45.17247 ◽

2014 ◽

Vol 20 (45) ◽

pp. 17247 ◽

Cited By ~ 8

Author(s):

Hirofumi Terakawa

Keyword(s):

Radiological Feature ◽

Lymphoepithelial Cyst

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Colonic atresia: spectrum of presentation and pitfalls in management: a review of 14 cases

Pediatric Surgery International ◽

10.1007/s00383-005-1568-5 ◽

2005 ◽

Vol 22 (2) ◽

pp. 206-206

Author(s):

S. G. Cox ◽

A. Numanoglu ◽

A. J. W. Millar ◽

H. Rode

Keyword(s):

Colonic Atresia

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Interesting case of allergic broncho pulmonary aspergillosis (ABPA) with high-attenuation mucus (HAM)

BMJ Case Reports ◽

10.1136/bcr-2021-242915 ◽

2021 ◽

Vol 14 (5) ◽

pp. e242915

Author(s):

Ritisha Bhatt ◽

Soumitra Ghosh ◽

Neha Handa ◽

Sudheer Tale

Keyword(s):

Specific Ige ◽

Radiological Feature ◽

Interesting Case ◽

Total Serum ◽

Lung Field ◽

Pulmonary Aspergillosis ◽

High Attenuation ◽

Chest X Ray ◽

Igg Level

A 25-year-old man, who was taking treatment for his poorly controlled asthma, presented with symptoms of cough with expectoration, gradually progressive shortness of breath, fever on and off and diffuse wheeze for 2 years. Chest X-ray revealed hyperinflation of lung field with dense opacification at right upper lobe. High-resolution CT chest showed bilateral patchy consolidation, central bronchiectasis and high-attenuation mucus (HAM) impaction. His blood absolute eosinophil count, total serum IgE level, Aspergillus fumigatus specific IgE and IgG level were 1910, 16760 kU/L, 59.8 kU/L and 147.41 kU/L, respectively. Diagnosis of allergic broncho pulmonary aspergillosis (ABPA) was established according to International Society for Human and Animal Mycology society guidelines. He was started on systemic steroids and doing well after 6 months of follow-up. Our case illustrates HAM, which is a rare but typical radiological feature of ABPA.

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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

Acta Endocrinologica ◽

10.1530/eje-21-0557 ◽

2021 ◽

Author(s):

Lucia Sentchordi-Montané ◽

Sara Benito-Sanz ◽

Miriam Aza-Carmona ◽

Francisca Díaz-González ◽

Silvia Modamio-Høybjør ◽

...

Keyword(s):

Short Stature ◽

Skeletal Dysplasia ◽

Genetic Defect ◽

Radiological Feature ◽

Molecular Defect ◽

Skeletal Dysplasias ◽

Skeletal Anomalies ◽

Radiological Data ◽

High Prevalence ◽

Next Generation Sequencing Ngs

Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n=10) and IHH (n=7) whilst one variant was detected in COL2A1, CREBBP, EXT1 and PTPN11. Statistically significant differences (p<0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio SDS and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.

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