Neuropediatrics 2016; 47(02): 123-127
DOI: 10.1055/s-0035-1571189
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification

Sangeetha Yoganathan
1   Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India
,
Gautham Arunachal
2   Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India
,
Sniya Valsa Sudhakar
3   Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India
,
Venkateswaran Rajaraman
4   Division of Child and Adolescent Psychiatry, Department of Psychiatry, Christian Medical College, Vellore, Tamil Nadu, India
,
Maya Thomas
1   Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India
,
Sumita Danda
2   Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India
› Author Affiliations
Further Information

Publication History

15 October 2015

30 November 2015

Publication Date:
09 February 2016 (online)

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.

Author's Contribution

Sangeetha Yoganathan, Venkateswaran Rajaraman, and Maya Thomas provided clinical care to the patient. Sangeetha Yoganathan prepared the initial report. Gautham Arunachal and Sumita Danda established the molecular diagnosis and revised the report. Sniya Valsa Sudhakar prepared the images and revised the report. The report was critically reviewed by Maya Thomas. All authors approved the final report.