Dataset Information

Congenital nodular multiple glomangioma: a case report.

ABSTRACT: A 13 year old girl presented with recurrent painful "varicosities" on her right calf. These lesions were subsequently clinically diagnosed as "cavernous haemangiomas" after normal duplex scanning and were excised. Histological examination revealed multiple glomangiomas (glomus tumours). A literature review revealed only two reported cases of nodular multiple glomangioma, so that this is the third case to be reported in the literature.

SUBMITTER: Chatterjee JS

PROVIDER: S-EPMC1770555 | biostudies-literature | 2005 Jan

REPOSITORIES: biostudies-literature

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Congenital nodular multiple glomangioma: a case report.

Chatterjee J S JS Youssef A H K AH Brown R M RM Nishikawa H H

Journal of clinical pathology 20050101 1

A 13 year old girl presented with recurrent painful "varicosities" on her right calf. These lesions were subsequently clinically diagnosed as "cavernous haemangiomas" after normal duplex scanning and were excised. Histological examination revealed multiple glomangiomas (glomus tumours). A literature review revealed only two reported cases of nodular multiple glomangioma, so that this is the third case to be reported in the literature. ...[more]

PMID: 15623496

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Project description:RationalePeriventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene.Patient concernsWe report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 to 3 toe syndactyly, hypotonia, microretrognathia, strabismus, and absent speech and walking. The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus. In addition, the patient suffered from many other symptoms.DiagnosesThe boy, his brother and their parents were subjected to whole-exome sequencing. Because of uncertainties in symptomatology and inheritance pattern, the top-down approach was hard to apply. Using the bottom-up approach, we identified a known pathogenic variant, NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys, in the proband's genome that absented in any other analyzed family member, suggesting its de novo origin.Interventions and outcomesThe patient was treated with Convulex 300 mg/mL for the successful seizure control and Euthyrox 25mg for the treatment of thyroid malfunction. He also took various supplements for the metabolism support and digestion regulation. Moreover, the patient underwent the corrective surgeries of cleft palate and talipes equinovarus.LessonsWe successfully identified the causative mutation NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys explaining symptoms overlapping those reported for PVNH7. Symptoms shared with the brother were not explained by this variant, since he was not a carrier of the pathogenic NEDD4L variant. These are most likely not extended phenotypes of PVNH7, rather an independent clinical entity caused by a yet unidentified genetic factor in the family, highlighting thus the importance of thorough evaluation of symptomatology and genomic findings in affected and unaffected family members, when such data are available.

Dataset Information

Congenital nodular multiple glomangioma: a case report.

Publications

Congenital nodular multiple glomangioma: a case report.

Similar Datasets

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