Gaucher disease type 2 (case report)

The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.

Download Full-text

Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.06.002 ◽

2019 ◽

Vol 127 (3) ◽

pp. 191-199 ◽

Cited By ~ 2

Author(s):

Gurpreet Seehra ◽

Beth Solomon ◽

Emory Ryan ◽

Alta M Steward ◽

Tamanna Roshan Lal ◽

...

Keyword(s):

Gaucher Disease ◽

Disease Type ◽

Parameter Evaluation

Download Full-text

Unilateral vestibular schwannoma with other neurofibromatosis Type 2–related tumors: clinical and molecular study of a unique phenotype

Journal of Neurosurgery ◽

10.3171/jns.2006.104.2.201 ◽

2006 ◽

Vol 104 (2) ◽

pp. 201-207 ◽

Cited By ~ 16

Author(s):

Manish Aghi ◽

Lan Kluwe ◽

Micah T. Webster ◽

Lee B. Jacoby ◽

Fred G. Barker ◽

...

Keyword(s):

Molecular Genetic ◽

Neurofibromatosis Type ◽

Molecular Study ◽

Molecular Genetic Analysis ◽

Neurofibromatosis Type 2 ◽

Spinal Tumors ◽

Rapid Progression ◽

Eighth Cranial Nerve ◽

Cranial Nerve Dysfunction

Object Although the manifestations of neurofibromatosis Type 2 (NF2) vary, the hallmark is bilateral vestibular schwannomas (VSs). The authors studied the clinical course and genetic basis of unilateral VSs associated with other NF2-related tumors. Methods Forty-four adults presenting with unilateral VSs and other NF2-related tumors were identified. A comprehensive review of patient records and cranial imaging was conducted. Molecular analysis of the NF2 locus was performed in available tumors and paired blood specimens. Patient age at symptomatic onset ranged from 11 to 63 years (mean 32 years). Twenty-two patients (50%) presented with eighth cranial nerve dysfunction. Twenty-six presented with multiple lesions. Thirty-eight harbored other intracranial tumors and 27 had spinal tumors, with most lesions situated ipsilateral to the VS. No patient had a relative with NF2, although two of 63 offspring had isolated NF2-related findings. A contralateral VS developed in four patients 3 to 46 years after the symptomatic onset of a unilateral VS, and two of these patients experienced rapid progression to total deafness. Results of a Kaplan–Meier analysis identified actuarial chances of developing contralateral VS: 2.9% (3–17 years after the VS symptomatic onset of unilateral VS), 11% (18–24 years), and 28.8% (25–40 years). Mosaicism for the NF2 gene mutation was proven in eight patients. Conclusions The authors describe the clinical features of this unique phenotype—unilateral VS with other NF2-related tumors. Persons with this phenotype should undergo evaluation and monitoring similar to that conducted in patients with NF2, and the possibility of aggressive contralateral VS formation should be considered in their treatment. Molecular genetic analysis is best performed using resected tumor specimens and will enable future studies to determine the genetic risks of individuals with mosaicism.

Download Full-text