Dataset Information

Rare gastrointestinal presentation of systemic mastocytosis, a case report.

ABSTRACT:

Introduction

Systemic mastocytosis is a rare disease resulting from infiltration of atypical mast cells in multiple organ systems and present with variety of symptoms. Primary appendiceal and cecal mass with isolated abdominal pain as a presenting feature in systemic mastocytosis have not been reported in literature up to now.

Case report

We described a 69- years-old female with systemic mastocytosis who presented with chronic abdominal pain and recent progression. On imaging of the abdomen and pelvis showed a mass in cecum. The patient underwent surgery and histopathologic evaluation of cecal and appendiceal masses revealed uniform small round cell tumor with eosinophilic cytoplasm admixed with many eosinophils distorting normal colonic mucosal architecture. The neoplastic cells showed positive expression of CD117 and Mast cell tryptase. According to all these considerations systemic mastocytosis was confirmed as the diagnosis.

Conclusion

Isolated abdominal pain and primary large intestinal mass are uncommon features of systemic mastocytosis. This case report informed physicians and pathologists to consider it as one of differential diagnosis.

SUBMITTER: Javadi AE

PROVIDER: S-EPMC9422182 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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Publications

Rare gastrointestinal presentation of systemic mastocytosis, a case report.

Javadi Arezoo Eftekhar AE Nazar Elham E Momeni Niousha N

Annals of medicine and surgery (2012) 20220713

<h4>Introduction</h4>Systemic mastocytosis is a rare disease resulting from infiltration of atypical mast cells in multiple organ systems and present with variety of symptoms. Primary appendiceal and cecal mass with isolated abdominal pain as a presenting feature in systemic mastocytosis have not been reported in literature up to now.<h4>Case report</h4>We described a 69- years-old female with systemic mastocytosis who presented with chronic abdominal pain and recent progression. On imaging of t ...[more]

PMID: 36045813

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Project description:INTRODUCTION:Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infants with cyclopia, including stillbirths. Cyclopia typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye. Extracranial malformations described in stillbirths with cyclopia include polydactyl, renal dysplasia, and an omphalocele. The etiology of this rare syndrome, which is incompatible with life, is still largely unknown. Most cases are sporadic. Heterogeneous risk factors have been implicated as possible causes. CASE PRESENTATION:A live full-term baby with birth weight of 2900 g, product of cesarean section because of severe fetal bradycardia, was born at Prince Hashem Military Hospital - Zarqa city/Jordan. This newborn was the first baby to a non-consanguineous family, and a healthy 18-year-old mother, with no history of drug ingestion or febrile illnesses during pregnancy. Antenatal history revealed severe hydrocephalus diagnosed early by intrauterine ultrasound but the pregnancy was not terminated because of the lack of medical legitimization in the country. On examination, the newborn was found to have a dysmorphic face, with a median single eye, absence of nose, micrognathia, and a proboscis above the eye, all of which made cyclopia the possible initial diagnosis. Multiple unusual abdominal defects were present that include a huge omphalocele containing whole liver and spleen, urinary bladder extrophy, and undefined abnormal external genitalia, which called for urgent confirmation. Brain MRI was done and revealed findings consistent with alobar holoprosencephaly (cyclopia). CONCLUSION:Presentation of cyclopia is not fully exposed and new cyclopian syndromes still can appear. The prenatal diagnosis of cyclopia can be made early by ultrasound, and the awareness of the spectrum of sonographic findings of cyclopia can improve the accuracy of prenatal diagnosis. The legitimization of pregnancy termination for indexed cases in many countries around the world should be revised.

Dataset Information

Rare gastrointestinal presentation of systemic mastocytosis, a case report.

Introduction

Case report

Conclusion

Publications

Rare gastrointestinal presentation of systemic mastocytosis, a case report.

Similar Datasets

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