title: Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.
abstract: Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of single gene disorders with distinguished clinical phenotypes and definitive imaging findings. Beta propeller protein-associated neurodegeneration (BPAN) is a subentity of NBIA with X linked dominant inheritance. In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for β propeller protein. This is the first genetically proven case from India. BPAN is an underrecognized disorder and must be considered as a differential diagnosis in children with atypical Rett features and should be enlisted among the causes for autistic regression and intracranial calcification. Pediatricians must be aware of this rare entity for establishing early diagnosis, prognostication, and genetic counseling. Treatment is usually supportive. More research is needed to explore drugs in the management of BPAN that can facilitate the autophagy and promotes cytoprotection.
authors: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Sangeetha
authors: S
authors: Yoganathan
authors: Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Gautham
authors: G
authors: Arunachal
authors: Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Sniya Valsa
authors: SV
authors: Sudhakar
authors: Division of Child and Adolescent Psychiatry, Department of Psychiatry, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Venkateswaran
authors: V
authors: Rajaraman
authors: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Maya
authors: M
authors: Thomas
authors: Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Sumita
authors: S
authors: Danda
mesh_terms: D001321:Autistic Disorder / Q000209:etiology*; D001479:Basal Ganglia / Q000378:metabolism / Q000473:pathology; D001480:Basal Ganglia Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D002114:Calcinosis / Q000209:etiology*; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D019150:Neuroaxonal Dystrophies / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D013378:Substantia Nigra / Q000378:metabolism / Q000473:pathology
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human