Mixed Quadriplegia with Lissencephaly and Dysmyelination

Lissencephaly results from a neuromigrational arrest during first and second trimester of pregnancy and shows hypotonia, marked mental retardation and seizure as predominant features. Myelination is a perinatal process and co-occurence of migrational disorder with myelination disorder is rare. We report a 17-month-old male with mixed quadriplegia and mental retardation with type 1 lissencephaly and dysmyelination of cerebral white matter diagnosed by magnetic resonance imaging.

Aicardi Syndrome: A case report

Aicardi syndrome is defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.

Fumarase Deficiency with Spastic Quadriplegia: A case report

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.

Clinical Significance of the R3 Response of the Blink Reflex in Medullar and Cervical Spinal Cord Lesions

OBJECTIVE: To compare the R3 response of the blink reflex in medullar and spinal cord lesion and to investigate whether the reflex arc of the R3 response descend to the cervical spinal cord or not. METHOD: We have studied 3 patients with medullar lesion and 5 patients with cervical spinal cord or vertebral lesion. Normal ranges of the R3 response refer to the results suggested by Moon et al. RESULTS: In 3 patients with medullar lesion, two patients with lateral medullar lesion showed delayed R3 latency or no evoked potential. Four patients with cervial spinal cord lesion showed no R3 response. In one patient with disc protrusion R3 was normal. CONCLUSION: Our results support the hypothesis that the reflex arc of the R3 response descend to the cervical spinal cord.

Normal Values of R3 Response of Blink Reflex

OBJECTIVE: To determine the normal data of R3 component of blink reflex in normal adults. METHOD: Subjects included 17 healthy males and 16 healthy females. Five trials of blink reflex were recorded from each side. The shortest latency of R3 response was the shortest among the 5 consecutive trials was selected. RESULTS: Mean onset latency of R3 was 79.8 ms, mean duration 31.0 ms, mean amplitude 399.5 V and a side-to-side difference of latency was 2.3 ms. The amplitude of R3 decreased with age. The latencies and durations of R1 and R2 were not related to those of R3. The amplitude of R2 was correlated with that of R3. CONCLUSION: This data will be useful for the localization of brainstem and cervical spinal cord lesions.

Congenital Insensitivity to Pain with Anhidrosis: Follow-up of 1 case

Congenital insensitivity to pain with anhidrosis (CIPA: a hereditary sensory and autonomic neuropathy, HSAN IV) is a rare disease characterized by the self-mutilation, bone fracture, multiple scars, osteomyelitis, joint deformities and anhidrosis. The pathophysiologic mechanism remains unknown. This is the report of a twelve years old boy who had been diagnosed as the CIPA at his age of five. Loss of unmyelinated and small myelinated nerve fibers have been noted in an abdominal skin biopsy. On follow up studies, no significant changes were noted in the clinical manifestations and in the findings of laboratory, radiologic and electrophysiologic studies when compared to the initial studies except for the minimally progressed neuropathic ankle joints. Long term follow up study including the sequential electrophysiologic examination and biopsy of nerve and muscle might be necessary to establish the natural course of the disease. Prevention of the injury should be emphasized for the good prognosis.

The Clinical Significance of Residual Latency in Diagnosis of Diabetic Neuropathy

OBJECTIVE: To determinate the reference values of residual latencies of motor nerves and to evaluate the early diagnostic value of residual latency. METHOD: The subjects were 129 diabetes mellitus patients and 60 controls with no known neurological disorders. The patients were divided into two groups based on the conventional nerve conduction study: Group 1, 75 patients without neuropathy; Group 2, 54 patients with neuropathy. The group 2 patients were subdivided into 4 sub- groups on the basis of conduction velocity and residual latency of the median nerve. Residual latencies were measured in all subjects and glycosylated hemoglobin percentages (HbA1c) were measured in the diabetes patients. In group 2, each nerve conduction parameter was correlated with the duration of diabetes and HbA1c. The duration of diabetes, HbA1c, and amplitude of median nerve response were compared between the subgroups of group 2 patients. RESULTS: Motor residual latencies obtained from the controls were 1.93+/-0.28 msec, 1.53+/-0.24 msec, 2.46+/-0.43 msec, 2.21+/-0.53 msec in median, ulnar, deep peroneal and posterior tibial nerves, respectively. In group 1, motor residual latencies of median & deep peroneal nerves were significantly delayed compared with those of the controls. In group 2, motor residual latencies of median, ulnar, deep peroneal and posterior tibial nerves were significantly delayed more than those of the controls and group 1. In group 2, increased HbA1c correlated to the decreased conduction velocities of median, deep peroneal, posterior tibial nerves but not to the residual latencies. In the subgroup of group 2 (2-D), the nerve involved more distally showing lower compound muscle action potential and higher HbA1c. CONCLUSION: Residual latency measurement can be a useful diagnostic method for the early detection of diabetic neuropathy.

Apoptotic process is involved in the L-glutamate-induced PC12 cell death

Although it is known that neuronal cell death during development occurs by apoptosis, the mechanisms underlying excitatory amino acid-induced neuronal cell death remain poorly understood. In this study we have examined the mechanism by which L-glutamate, an excitatory amino acid neurotransmitter, induces cell death in PC12 cell lines. To characterize cell death, we employed sandwich enzyme-linked immunosorbent assay (ELISA) method for cellular DNA fragmentation, DNA agarose gel electrophoresis and chromatin staining by acridine orange and ethidium bromide after treating the PC12 cells with L-glutamate. L-Glutamate caused dose-dependent cell death with a maximum at 24 hrs after the treatment. These cellular fragmentation was blocked by pretreatment of MK-801, a noncompetitive N-methyl-D-aspartic acid (NMDA) receptor antagonist, and nerve growth factor(NGF). Analysis of DNA integrity from L-glutamate-treated cells revealed cleavage of DNA into regular sized fragments, a biochemical hallmark of apoptosis. The PC12 cells that were induced to die by L-glutamate treatment exhibited classical chromatin condensation under the light microscopy after acridine orange and ethidium bromide staining. These results suggest that apoptosis is one of the key features that are involved in L-glutamate-induced excitotoxic cell death in PC12 cells, and these cell death are mediated by NMDA receptor and depend on NGF.