Krabbe's disease presenting as a peripheral neuropathy

Abstract

A 13-year-old female initially presented with scoliosis and pes CASE OF THE MONTHcavus. Initial examination revealed distal lower extremity weakness and sensory loss, as well as greater auricular nerve hypertrophy. There was a Section EditorsBabinski sign on the right. Nerve conduction velocities were consistent with a demyelinating neuropathy. Four years after initial presentation she developed A 13-year-old female initially presented with scoliosis in the extremities. General physical exam revealed scoliosis and pes cavus. Cranial nerves II-XII were and pes cavus. She was well until the age of 9 years, when she was found to have scoliosis during a school intact. Motor exam demonstrated normal strength, tone, and bulk in the upper extremities with the physical. She was first seen by an orthopedist and then by a neurology consultant. Her prenatal, perinaexception of equivocal weakness of the right abductor digiti minimi muscle. In the lower extremities, tal, and developmental history were unremarkable. School history indicated that she had repeated the hip flexor strength was 4ϩ/5, hamstrings were 5Ϫ/5, and quadriceps were 5/5. Peroneal and antesixth grade and was a below average student. Her past medical history was remarkable for cardiomegaly rior tibialis were 4ϩ/5 and extensor hallucis longus was 4ϩ/5 bilaterally. Sensory exam was intact to viand mitral valve prolapse, which was diagnosed at the age of 9 years when she developed difficulty bration and position sense. Pain and temperature sensation were mildly diminished in a stocking and breathing. She was seen by a cardiologist and her symptoms resolved without treatment.glove distribution bilaterally. Deep tendon reflexes were absent in both biceps, 1ϩ at the triceps and Family history was unremarkable for neuropathy or high arches. A maternal cousin did have scoliosis.brachioradialis bilaterally, 2ϩ at both patella, and 3ϩ at the ankles bilaterally. The plantar reflex was At the time of initial evaluation she was asymptomatic, with no complaint of weakness, numbness, or pain flexor on the left and there was a Babinski sign on the right. Both greater auricular nerves were hypertrophied. The patient remained neurologically stable and

Peripheral nerve involvement in neurolipidoses

“…With electron microscopy, unusual elongated or prismatic inclusions of galactosylceramide are seen in the cytoplasm of Schwann cells and brain macrophages [6]. In other reports, widespread hypomyelination with thin myelin sheaths in most myelinated axons has been described [7,8] Niemann-pick disease (sphingomyelin lipidosis)…”

Clinical Cases in Pediatric Peripheral Neuropathy

“…Late onset Krabbe's disease has been reported to present initially only as a peripheral neuropathy before the clinical onset of CNS manifestations. However, typically, the peripheral neuropathy associated with Late Onset Krabbe's disease is one of many other symptoms including limb weakness, termor, ataxia, nystagmus, blindness, psychomotor regression, and bulbar symptoms (Marks, 1997). Other disorders associated with neuropathy include, Refsum, Mucopolysaccharidoses (which can present with bilateral Carpal tunnel syndrome) (Gschwind, 1992), Lowe's, and mitochondrial disorders (Wierzbicki, 2002;Charnas, 1998;Moosa, 1970).…”

The Peripheral Neuropathy Evaluation in an Office-Based Neurology Setting

“…Known forms of inherited neuropathies include the various forms of hereditary motor sensory neuropathy (HMSN; Charcot-Marie-Tooth), 57 hereditary sensory autonomic neuropathy (HSAN), spinocerebellar ataxias, and hereditary neuropathy with liability to pressure palsies (HNPP). Metabolic diseases with associated neuropathies are also recognized, such as family amyloid neuropathies, 58 Refsum disease, 59 Tangier disease, 60 Fabry disease, 61 porphyria, 62 leukodystrophies (metachromatic leukodystrophy, 63 globoid cell leukodystrophy, 64 and adrenomyeloneuropathy, 65 abetalipoproteinemia 66 ), and mitochondrial neuropathies. 67 Of the vast number of types of hereditary neuropathies, the most commonly encountered types are HMSN I and II.…”