Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid in three siblings.

We investigated the therapeutic effect of chenodeoxycholic acid (750 mg/day) in three siblings with cerebrotendinous xanthomatosis. All three siblings had characteristic clinical manifestations, abnormal findings of magnetic resonance imaging and electroencephalogram, and high serum levels of cholestanol, cholesterol precursor (lathosterol), and plant sterols (campesterol, sitosterol). After treatment for one year, the serum levels of these sterols were decreased and some neurologic improvements in the pyramidal tract signs and cerebellar signs were noted. The electroencephalographic findings were markedly changed and normalized. However, mental defects and sensorimotor polyneuropathy still remained. No changes of neuroradiologic features could be detected. A longer period of treatment is required to estimate the overall effects of chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.

Congenital mirror movement: report of a case.

We report the case of a 27-year-old woman who has had mirror movements in both hands since childhood. These synkinetic involuntary movements impair her performance in bimanual activities such as buttoning clothes, tying shoes, and washing dishes. Cranial magnetic resonance imaging disclosed only mild diffuse cortical atrophy. Although congenital mirror movements have been well-documented in the English literature, we herein report the first case of a Chinese patient in Taiwan.

Cerebrotendinous xanthomatosis in three siblings from a Taiwanese family.

We present and discuss the clinical and biochemical findings of three siblings with cerebrotendinous xanthomatosis, which has not been previously reported in Taiwan. Clinical features consisted of tendinous xanthomas, cataracts, mental defects, pyramidal signs, cerebellar ataxia, peripheral neuropathy and renal stones. Biochemical findings included normal serum cholesterol levels, high serum cholestanol levels and elevated serum cholestanol to cholesterol ratios. The serum levels of cholesterol precursor (lathosterol) and plant sterols (campesterol, sitosterol) were also elevated.

A comparison of CT and MR images in migration disorders of brain. Report of four cases.

Migration disorders are congenital brain malformations. These anomalies may be overlooked in CT studies. We present four cases with migration disorders. All have both CT and MRI studies. Comparison of the images of CT and MRI at corresponding levels is demonstrated. The superiority of MR images to CT in delineating the migration and sulcation disorders is discussed.

Experience in the treatment of myasthenia gravis with double filtration plasmapheresis.

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease characterized by production of autoantibodies directly against acetylcholine receptors on postjunctional membranes. The treatment modalities of myasthenia gravis include cholinesterase inhibitors, surgical thymectomy, immunosuppressive treatment, and short-term immunotherapies, including plasmapheresis and intravenous immune globulin. Double filtration plasmapheresis (DFP) is a new technique of plasmapheresis. The aim of our study is to evaluate the effectiveness and complications of DFP in the treatment of MG. METHODS: From December, 1993 to August, 1998, a total of 33 patients with MG received 68 courses (total of 299 sessions) of DFP in our hospital. Plasmapheresis volume, drainage volume, treatment duration, heparin dose, and complications were recorded. In addition, clinical responses after DFP were also evaluated. RESULTS: Only 4 courses (5.88%) of treatment were ineffective. Sixty-four courses (94.12%) of treatment lessened disease activity. The complications of DFP included 15 episodes of hypotension (5.01%), 2 of bradycardia (0.67%), 3 of chest pain (1.00%), 7 of dizziness (2.34%), 58 of high transmembranous pressure of plasma separator (19.40%), 3 of high secondary pressure of plasma fractionator (1.00%), 12 of hemolysis (4.01%), 2 of plasma separator clot (0.67%), 2 of plasma fractionator clot (0.67%), 3 of blood leakage (1.00%), and 1 of air embolism (0.33%). There was no mortality associated with the DFP procedure. CONCLUSION: DFP is a safe, convenient, and time-saving therapy with rare severe complications in the treatment of MG. Our experience confirms its effectiveness when used in combination with drug therapy and thymectomy.

Muscle force, motor nerve conduction velocity and compound muscle action potentials after parathyroidectomy for secondary hyperparathyroidism.

OBJECTIVE: We studied the motor nerve conduction velocity (MNCV) and the amplitude of compound muscle action potentials (CMAP) in patients with symptomatic secondary hyperparathyroidism at preoperative and 3 months post-operative period, to find the factors affecting muscle force after parathyroidectomy. METHODS: Twenty-six patients with symptomatic secondary hyperparathyroidism with levels of intact parathyroid hormone (iPTH) over 6.8 pmol/l who underwent total parathyroidectomy and autotransplantation of 60 mg of tissue were included in this research. Extension force of the quadriceps muscle was measured at 60 degrees of right knee flexion and expressed as Newtons (N) in peak force and average force. Nerve conduction studies of four limbs were checked and the MNCV and CMAP of right femoral and tibial nerves were analyzed and correlated with the muscle force. RESULTS: Three months after operation, the peak force increased from 272 +/-108 to 315 +/- 123 N (P=0.015) and the average force from 215 +/- 94 to 253 +/- 103 N (P=0.006). MNCV and latencies of femoral and tibial nerves did not show definite change, but the amplitude of CMAP increased significantly from 7.1 +/- 4.1 to 10.7 +/- 3.2 mV (P=0.005) at femoral stimulation and from 9.8 +/- 4.6 to 11.7 +/- 4.3 (P=0.007) and 13.2 +/- 5.9 to 14.9 +/- 6.0 (P=0.011) at proximal and distal tibial stimulation. CONCLUSION: The improvement of muscle force after surgery was found to be parallel to the increment of the amplitude of CMAP but not to nerve conduction velocity or latency. We propose that the weakness of the patients with secondary hyperparathyroidism is probably related to alteration of muscle fiber contraction.

Recordings of pre- and postoperative sympathetic skin response in patients with palmar hyperhidrosis.

Transthoracic endoscopic sympathectomy is an accepted standard surgical treatment for hyperhidrosis palmaris. During the past 4 years, more than 500 patients underwent this kind of surgical treatment at our institution with a 98% success rate. About 50% of cases were found to have compensatory sweating. We measured the sympathetic skin response (SSR) and R-R interval variation (RRIV) in 38 normal control subjects, and 50 consecutive patients with palmar hyperhidrosis before and 2 weeks after transthoracic endoscopic T2-3 sympathectomy. Before sympathectomy SSR was absent in 36% of patients on deep inspiratory stimulation and in 20% on electrical stimulation. After T2-3 sympathectomy, SSR in the palms was absent in 64% of patients with deep inspiration stimulation and in 76% on electrical stimulation. A decrease in the SSR amplitude in the soles was found in 40% on deep inspiration and in 54% of patients on electrical stimulation. RRIV was not significantly influenced 2 weeks after sympathectomy. The high abnormal rate of SSR in the patient group indicated that an abnormal regulation of the sudomotor control center played an important role in palmar hyperhidrosis.

Idiopathic palatal myoclonus: report of two cases.

We report two patients with idiopathic palatal myoclonus presenting as a synchronous up-and-down beating of the soft palate, to-and-fro thrusting of the tongue, and contraction of pharyngeal and laryngeal muscles. The obvious pulsatile movements were visible on the submental surface and a loud clicking noise was audible from a distance. The involuntary jerkings predominantly appeared when the mouth was kept shut, but could be interrupted by some oro-lingual maneuvers such as phonation, swallowing, and sticking the tongue out. Although the palatal myoclonus did not affect the function of the mouth, the patients were socially embarrassed by the loud clicking sound and pulsatile movements. On clinical examination and laboratory investigations, no evidence of lesion in the brainstem or cerebellum was obtained. A therapeutic trial with trihexyphenidyl did not bring any benefit. To conclude, because the idiopathic palatal myoclonus is a rare movement disorder which has never been documented in Taiwan, we describe its clinical characters in two Chinese patients and discuss the differential diagnosis with other involuntary lingual movements.

MELAS syndrome: correlation between clinical features and molecular genetic analysis.

The clinical manifestations and mitochondrial DNA (mtDNA) mutations in a Taiwanese family with a female proband exhibiting mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome are reported. Clinically, the proband had a stroke-like episode with right hemiparesis, hemianopsia and mental dysfunction as well as short stature, hearing impairments, and elevated lactate levels. Brain magnetic resonance images showed multiple increased signal intensities over the left frontal, parietal and temporal areas. There were no ragged-red fibers, but paracrystalline inclusion bodies were shown in the muscle biopsies under electron microscopic examination. A deficiency of NADH-CoQ reductase was also found in biochemical studies of the muscles. The family survey revealed no abnormal findings except for headache and episodic vomiting in her mother. The molecular analysis of mtDNA disclosed a mutation from A to G at the nucleotide pair 3243 of the mitochondrial transfer RNA(Leu) gene in the blood, hair follicles and/or muscle of the maternal relatives. A characteristic finding of the MELAS family is variation of percentage of mutated mtDNA in various tissues and individuals. However, a higher proportion of mutated mtDNA was noted in the proband than that in the asymptomatic or oligosymptomatic family members. From the data, the variable clinical phenotypes in this MELAS family can be explained at least partly, by the different proportions of mutant mtDNA in the target tissues of the proband and maternal relatives.