Refractory constipation and megacolon in MEN 2b

Dunzendorfer, Thomas; Lee, Victor W.; Levine, Sharon A.; Morenas, Antonio de las; Beazley, Robert M.; Chipkin, Stuart R.

doi:10.1007/bf02071406

Cited by 6 publications

(2 citation statements)

References 18 publications

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“…Conversely, adult ADHD patients usually have mild symptoms with later onset that are hard to associate with ADHD, thus causing delayed treatment. Many previous studies have described the clinical manifestations of patients with ADHD[ 24 , 25 ], which are in line with the most common symptoms that we found in our study ( i.e., abdominal pain, abdominal distension, and constipation). However, we also found uncommon symptoms.…”

Section: Discussionsupporting

confidence: 91%

Adult patients with allied disorders of Hirschsprung’s disease in emergency department: An 11-year retrospective study

Jiang¹,

Song²,

Feng³

et al. 2022

WJGS

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BACKGROUND In the past years, only a few studies with a limited number of adult patients analyzed clinical features of allied disorders of Hirschsprung’s disease (ADHD), most of which were individual case reports or lacked detailed clinical information. Although many studies have reported patients presenting to the emergency department (ED) with recurrent abdominal symptoms for a number of disorders, there are few data involving ADHD. However, owing to a lack of awareness of the disease, misdiagnoses and mistreatments are common. Severe complications such as perforation, bleeding, malabsorption, and even death in ADHD had been reported by many studies. AIM To assist ED clinicians in having a more comprehensive understanding of this disease and making an early suspected diagnosis of ADHD more effectively. METHODS We enrolled 53 patients who visited the ED and were eventually diagnosed with ADHD over the past 11 years in our hospital. Their basic information, clinical manifestations, and imaging findings were analyzed. Blood indices were compared between the ADHD and irritable bowel syndrome (IBS) groups. RESULTS Adult patients with ADHD had a mean age of 48.8 ± 14.3 years, and 77.4% had been treated before admission. The transverse colon was the most common dilated part (73.6%), and constipation (67.9%) was the most common symptom. ADHD patients can present with uncommon symptoms and false-negative imaging findings. Logistic regression analysis indicated that body mass index (BMI) [odds ratio (OR) = 0.786, P = 0.013], cholinesterase (per 1000 units; OR = 0.693, P = 0.008), and blood chlorine (OR = 0.816, P = 0.022) were determined to be independent related factors between the ADHD and IBS groups. The area under the receiver operating characteristics curve of these three indices combined was 0.812 ( P < 0.001). CONCLUSION Emergency physicians should be vigilant regarding patients with chronic constipation, abdominal pain, or abdominal distension, and consider the possibility of ADHD despite its rarity. Abdominal computed tomography examination is recommended as a useful tool in the suspected diagnosis of ADHD. BMI, cholinesterase, and blood chlorine have good discriminative abilities between ADHD and IBS. The nutritional status of adult patients with ADHD is worthy of further attention. Surgical treatment for adult patients with ADHD is important and inevitable.

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Section: Discussionsupporting

confidence: 91%

Adult patients with allied disorders of Hirschsprung’s disease in emergency department: An 11-year retrospective study

Jiang¹,

Song²,

Feng³

et al. 2022

WJGS

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“…In MEN 2B, several radiographic abnormalities may be found: disturbed motility and segmental dilatation of the esophagus, gastroesophageal reflux, distention of the stomach, segmental dilatation of the small bowel, abnormal haustral pattern of the colon, and megacolon, which is the most frequent abnormality. 21,25 Although the differential diagnosis of megacolon includes many disorders (Table 1), Hirschsprung disease is usually suspected strongly.…”

Section: This Patient With a De Novo Ret Codon 918mentioning

confidence: 99%

Constipation as the Presenting Symptom in De Novo Multiple Endocrine Neoplasia Type 2B

Krijger¹,

Brooks²,

Harst³

et al. 1998

Pediatrics

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ABBREVIATIONS. MEN 2, multiple endocrine neoplasia type 2; MTC, medullary thyroid carcinoma; PCR, polymerase chain reaction; IND B, intestinal neuronal dysplasia type B.M ultiple endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct dominantly inherited neuroendocrine cancer syndromes: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma, which share medullary thyroid carcinoma (MTC) as part of the disease spectrum.1 MEN 2A patients are characterized by the additional occurrence of pheochromocytoma and/or parathyroid hyperplasia. MEN 2B patients also have pheochromocytomas and, very rarely, parathyroid hyperplasia; in addition, they have mucosal neuromas, mainly of the buccal mucosa and tongue, ganglioneuromatosis of the gastrointestinal tract, skeletal and ophthalmologic abnormalities, and a Marfanoid habitus 2 (Table 1). All MEN 2 syndromes are caused by missense mutations in different areas of the RET proto-oncogene, 3-5 which encodes a receptor tyrosine kinase, for which glial cell-line derived neurotrophic factor and neurturin are the ligands. 6 -8 A single, identical point mutation in the catalytic core of the RET tyrosine kinase domain (codon 918Met3 Thr ) has been found in 94% of inherited and de novo cases of MEN 2B, which makes this disorder well-suited for genetic testing.9 Because of this and because 50% of MEN 2B cases present de novo, it is important to be aware of possible presenting symptoms in combination with the typical features of MEN 2B patients. Very rarely, patients with typical MEN 2B features do not have RET codon 918 (exon 16) mutations.9 -11 Those cases are most probably caused by mutations elsewhere in the RET gene, eg, at codon 883 of RET exon 15. 12In this report, we present a case of a girl with dysmorphic features, chronic constipation, and abnormal histology of the enteric nervous system in early childhood. Sixteen years later, she presented with MTC and was found to harbor a de novo RET mutation, characteristic of MEN 2B. MATERIALS AND METHODS Histology and ImmunohistochemistryFive-micron sections of paraffin-embedded tissue (resected colon and MTC) were deparaffinized. Hematoxylin and eosin and sirius red staining (colon) were performed according to standard methods. For immunohistochemistry, sections were incubated for 30 minutes at room temperature with antibodies to calcitonin (1:900, Dako, Glostrup, Denmark) and thyroglobulin (1:2500, Dako) for the MTC, and PGP9.5 (1:1000, Biogenesis, New Fields, UK) and S100 (1:2500, Dako) for the colon. A microwave antigen retrieval method was used followed by overnight incubation at 4°C for antibodies to RET (1:3000, Dako), for the MTC. Then, sections were washed and a biotinylated goat-anti-multilink (1:50, Klinipath Biogenex, Uden, The Netherlands) with 2% normal human serum and 2% normal goat serum (Dako) was added for 30 minutes, followed by the avidin-biotin-complex (1:50, Klinipath Biogenex) for 30 minutes. Sections were developed with diaminobenzidine tetrahydrochlorate (Fluka, Neu-Ulm, Germany) with 0.3% H...

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Variants of Hirschsprung’s Disease

Friedmacher¹,

Puri²

2019

Hirschsprung's Disease and Allied Disorders

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Refractory constipation and megacolon in MEN 2b

Cited by 6 publications

References 18 publications

Adult patients with allied disorders of Hirschsprung’s disease in emergency department: An 11-year retrospective study

Adult patients with allied disorders of Hirschsprung’s disease in emergency department: An 11-year retrospective study

Constipation as the Presenting Symptom in De Novo Multiple Endocrine Neoplasia Type 2B

Variants of Hirschsprung’s Disease

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