Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.
Neurol Sci
; 43(10): 6091-6093, 2022 Oct.
Article
en En
| MEDLINE
| ID: mdl-35750946
ABSTRACT
INTRODUCTION:
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder that presents cognitive and movement impairment. To diagnose PFBC, both brain calcium accumulations visible at computed tomography (CT) and autosomal dominant or recessive inherited genetic mutation(s) in one of the known genes have to be detected. We describe the case of a female patient aging 62, who presents marked calcifications at brain CT, not due to vitamin D deficiency. These data generated the suspect of PFBC. The patient has two young sons. MATERIALS ANDMETHODS:
The patient first, and her two sons later, underwent clinical and neurological examinations, brain CT, and blood draw for genetic analysis at our clinic.RESULTS:
Patient's neurological exams detected gait impairment and tremor of the hands. Brain CT showed calcification of the basal ganglia, cerebellar dentate nuclei, and white matter. Laboratory exams identified high serum parathormone (PTH) and low plasmatic levels of vitamin D; supplementation with vitamin D normalized PTH values. Genetic analysis of the known PFBC-causing genes uncovered a new pathogenic mutation in PDGFB. The same calcifications and genetic variant were found in her younger son.DISCUSSION:
Our report presents the case of a patient mildly affected by PFBC due to a novel PDGFB mutation that could have been mistaken with hyperparathyroidism if any further investigations had not been performed. Her younger asymptomatic son bore the same calcification and mutation of the mother, highlighting the importance of family pedigree collection and early diagnosis for prevention of symptoms' onset with future treatments.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Encefalopatías
/
Calcinosis
Tipo de estudio:
Prognostic_studies
/
Screening_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
Neurol Sci
Asunto de la revista:
NEUROLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Italia