Format

Send to

Choose Destination
J Neurol. 2015 Oct;262(10):2346-51. doi: 10.1007/s00415-015-7859-4. Epub 2015 Jul 21.

Frequent misdiagnosis of adult polyglucosan body disease.

Author information

1
Department of Neurology, Rabin Medical Center, Beilinson Campus, Petach Tikva, Israel.
2
Sacker Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
3
Department of Neurology and the Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, POB 12000, 91120, Jerusalem, Israel.
4
Department of Urology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
5
Department of Neurology, Wolfson Medical Center, Holon, Israel.
6
Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
7
Department of Neurology, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel.
8
Maccabi Health Services, Tel Aviv, Israel.
9
Department of Neurology, Assaf Harofeh Medical Center, Rishon Le Zion, Israel.
10
Department of Neurology, The Chaim Sheba Medical Center, Tel Hashomer, Israel.
11
Department of Radiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
12
Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
13
Department of Neurology and the Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, POB 12000, 91120, Jerusalem, Israel. alos@hadassah.org.il.

Abstract

Adult polyglucosan body disease (APBD) is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and neurogenic bladder. Misdiagnosis of APBD may lead to unnecessary investigations and to potentially harmful therapeutic interventions. To examine the frequency of misdiagnosis of APBD, we retrospectively reviewed the clinical data of 30 patients diagnosed between 1991 and 2013. Diagnosis was based on the combination of typical clinical and imaging findings, reduced glycogen branching enzyme activity, and the presence of p.Y326S GBE1 mutation. Initial symptoms started in the 5th-6th decade with bladder dysfunction (47 %), gait problems (33 %) or both. Diagnosis of APBD was delayed by 6.8 (±4.8) years. Consistent signs at diagnosis were spasticity in the legs (93 %), decreased or absent ankle reflexes (100 %), bilateral extensor plantar response (100 %) and distal sensory deficit (80 %). Nerve conduction study showed invariable sensorimotor polyneuropathy, and MRI demonstrated cervical spinal cord atrophy (100 %) and leukoencephalopathy (97 %). All 30 patients were initially misdiagnosed. Common misdiagnoses included cerebral small vessel disease (27 %), multiple sclerosis (17 %), amyotrophic lateral sclerosis (17 %) and peripheral neuropathies (20 %). Consequently, 27 % received inappropriate therapy. In addition, lower urinary tract symptoms in 60 % of men were attributed solely to prostatic disorders but did not respond to medical treatment or prostatectomy. These findings suggest that despite limited clinical variability, APBD is invariably misdiagnosed and patients are often mistreated. Physicians' unfamiliarity with the typical clinical and imaging features of APBD appears as the main reason for misdiagnosis.

KEYWORDS:

Adult polyglucosan body disease; GBE1 gene; Glycogen branching enzyme; Spastic paraparesis

PMID:
26194201
DOI:
10.1007/s00415-015-7859-4
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center