ABSTRACT
OBJECTIVE: To evaluate the effect of peripheral vascular disease (PVD) on diabetic neuropathy with the use of Doppler ultrasound and electrodiagnostic study. METHOD: One hundred fifty one patients with diabetes mellitus underwent nerve conduction studies. PVD was diagnosed when ankle-brachial index (ABI) was 0.9 and less and also toe-brachial index (TBI) was 0.7 and less. Electrophysiologically normal group was subdivided into non- PVD group (A1) and PVD group (A2). Diabetic neuropathy group was subdivided into non-PVD group (B1) and PVD group (B2). The frequency of diabetic neuropathy and the difference of amplitude, conduction velocity, and F wave latency within A groups and B groups were investigated. RESULTS: Diabetic neuropathy was significantly correlated with PVD (p<0.05). There was no definite difference of electrophysiologic parameters between A1 and A2 groups. B1 group showed significantly reduced amplitude of sensory nerve action potential (SNAP) in sural nerve compared with B2 group (p<0.05). In all patients, the amplitude of SNAP in sural nerve was related with duration of diabetes and TBI by multiple linear regression analysis. CONCLUSION: This study supports the influence of PVD on diabetic neuropathy and suggests vascular abnormality in patients with diabetic neuropathy may result in predominantly axonal injury rather than demyelinating injury.
Subject(s)
Humans , Action Potentials , Ankle Brachial Index , Axons , Diabetes Mellitus , Diabetic Neuropathies , Linear Models , Neural Conduction , Peripheral Vascular Diseases , Sural Nerve , UltrasonographyABSTRACT
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations in the proteolipid protein (PLP) gene. PLP is located at Xq22 and its mutation result in abnormal expression or production of PLP, the most abundant protein in CNS myelin. We present a case of PMD in the 7-year-old boy with nystagmus, ataxia, spastic quadriplegia and severe psychomotor delay. His brain MRI revealed totally dysmyelinated white matter involving entire supratentorial region, atrophic change, and overaccumulation of the iron in both basal ganglia. He also showed soft-tissue contractures of the hip adductors, associated hip dislocations and equinovarus foot deformities due to severe spasticity of lower extremities. Orthopaedic surgery was performed on both hips. Antispastic medication and physical therapy were maintained for reduction of spasticity. We report this case with the review of literatures.
Subject(s)
Child , Humans , Male , Ataxia , Basal Ganglia , Brain , Central Nervous System , Clubfoot , Contracture , Foot Deformities , Hip , Hip Dislocation , Iron , Lower Extremity , Magnetic Resonance Imaging , Muscle Spasticity , Myelin Sheath , Pelizaeus-Merzbacher Disease , QuadriplegiaABSTRACT
Fumarase catalyzes the conversion of fumarate to malate in the Krebs cycle. Fumarase deficiency is a rare inborn error of metabolism and is inherited in an autosomal recessive manner. It causes mitochondrial encephalomyopathy. The symptom is characterized by developmental delay and hypotonia. We report here a case of a 32-month-old child who was initially refered because of spastic quadriplegia, delayed development and poor feeding.