A 13-year-old boy with the juvenile type of acid alpha-glucosidase deficiency is presented. Muscle CT scans performed before muscle biopsy revealed high image density over the entire rectus femoris, and partial high density over the iliopsoas, adductor magnus and tibialis anterior. MRI of the rectus femoris in the transaxial plane showed high image intensity over the entire length of the muscle in both T1- and T2-weighted images. A biopsy revealed a surprising histological difference between the rectus femoris, which showed pronounced vacuolar myopathy with excessive glycogen, and the vastus lateralis, in which deposition of glycogen was minimal and the CT image indicated a normal muscle density. The findings in this case suggest that CT scanning and MRI are useful in recognizing muscle involvement in acid alpha-glucosidase deficiency, which is characterized by images of increased density compared to normal muscle, presumably because excessive deposition of glycogen and lysosomal membranes cause high X-ray absorption on CT and high signal intensity on MRI.

Adolescent↗

PubMedDate not supplied

Abnormality of cerebral gangliosides in Fukuyama type congenital muscular dystrophy.

Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, was present in a relatively high percentage in the white matter, which showed frontal lobe micropolygyria and diffuse low density on CT and MR T1-imaging.

Adolescent↗

PubMedDate not supplied

Muscle CT scans in preclinical cases of Duchenne and Becker muscular dystrophy.

Skeletal muscle CT scans were performed in patients with Duchenne (DMD) as well as Becker muscular dystrophy (BMD) in the preclinical or early clinical stage, at the levels of the 3rd lumbar vertebra, the mid thigh, and the maximum circumference of the calf. Only slight intramuscular low density areas and muscular atrophy were ascertained on gross visual inspection from the age of 3 years onward in DMD. However, the mean CT numbers calculated for individual muscles clearly decreased with increasing age in all muscles except anterior and posterior tibialis, which indicated them to be well preserved. Comparison of the rates of decrease in the CT numbers revealed that a rapid change in the paravertebral group commenced in the muscles on the lateral side, while among the adductors of the thigh, gracilis tended to be comparatively well preserved; this is the pattern of muscle involvement characteristic of symptomatic patients. In BMD, the atrophic change was extremely slight, and the CT numbers of the muscles were higher than the corresponding values for DMD in the same age group. CT numbers represent more objective indices for the assessment of muscular lesions as compared with gross visual inspection of skeletal muscle CT scans at the preclinical stage.

Adolescent↗

PubMedDate not supplied

Morphometric study of the corpus callosum in Fukuyama type congenital muscular dystrophy by magnetic resonance imaging.

The corpus callosum (CC) of 24 Fukuyama type congenital muscular dystrophy (FCMD) patients were studied using midsagittal MRI and the results were compared with those of 20 age-matched controls. The measurements included the thickness of the genu, body and splenium; the length, height and five specific angles of the CC. The cephalic index was also measured on axial MRI. The correlations among CC length, CC height, the five angles and the cephalic index were evaluated. One case of FCMD was found to have CC agenesis. The thickness of the genu, body, splenium and CC length were significantly reduced in FCMD. In addition, in FCMD, the CC height was increased, angle alpha was greater, angle delta reduced and the CC configuration more rounded, showing a high arch on imaging. No significant correlations among CC length, CC height, the five specific angles and the cephalic index were found in any of the FCMD data. These observations demonstrated the fact that CC development in FCMD is uniquely abnormal, and abnormal CC configuration does not have any correlation with altered cephalic index.

Adolescent↗

PubMedDate not supplied

Pattern reversal visual evoked potentials in migraine with aura and migraine aura without headache.

Pattern reversal visual evoked potentials (PVEPs) were recorded in 20 patients with migraine with aura (MA), 19 patients with migraine without headache (migraine equivalent; ME) during interictal periods, and 34 normal subjects. All migraine patients had hemianopsia or fortification spectra during attacks. In both MA and ME patients of less than 49 years of age, there were significant (p<0.01) differences in amplitude of PVEPs at the mid-occipital and contralateral to visual aura electrode sites compared to normal subjects. Amplitude of PVEPs in MA and ME showed significant (p<0.001) increases when recorded soon after attacks, especially within 10 days. There was a significant (p<0.01) correlation between percentage asymmetries and the duration of illness in both MA and ME. We conclude from our PVEP findings that cortical spreading depression remains the most likely explanation for the migraine visual aura.

Adult↗

PubMedDate not supplied

The bilateral effect of stellate ganglion block on the facial skin blood flow.

BACKGROUND AND OBJECTIVES: It is our hypothesis that stellate ganglion block increases regional blood flow on the blocked side, but does not change cardiac output, suggesting that the corresponding regional blood flow on the contralateral side may decrease, which would be disadvantageous for patients with bilateral sympathetically-maintained pain. The aim of this study is to examine the effect of stellate ganglion block on facial skin blood flow. METHODS: Skin blood flow on the right and left forehead was measured by a laser blood flowmeter before stellate ganglion block and 15 minutes after the block. The block was performed for 8 outpatients with acute or chronic pain in the head or neck using a 24-gauge needle, 5 mL of 1% mepivacaine, and a paratracheal approach at the C6 transverse process. Time control without the block was obtained with 9 healthy volunteers. RESULTS: All the patients developed the Horner's syndrome on the blocked side, but not on the contralateral side. The facial skin blood flow increased from 7.5 +/- 1.1 mL/min/100 g to 14.5 +/- 1.4 mL/min/100 g on the blocked side (P < .01) and from 8.8 +/- 1.2 mL/min/100 g to 12.8 +/- 1.7 mL/min/100 g on the contralateral side (P < .05). The healthy volunteers without the block showed no significant change (from 10.1 +/- 0.8 mL/min/100 g to 10.3 +/- 0.7 mL/min/100 g). CONCLUSIONS: Our study suggests that stellate ganglion block may increase the contralateral regional skin blood flow.

Adult↗

PubMedDate not supplied

A case of homicidal poisoning involving several drugs.

Accidental or suicidal poisonings due to benzodiazepines have been previously reported. A case of fatal, homicidal poisoning with benzodiazepines, antipyretic analgesics (anti-inflammatory drugs), and beer is described here. In this homicidal poisoning, the drugs and beer were given to the decedent by his wife. Autopsy findings showed no clinically significant macroscopic findings except for slight postmortem change. Capillary gas chromatography coupled to mass spectrometry was employed to quantitate the drugs in biological fluids and stomach contents. Six drugs (brotizolam, triazolam, ibuprofen, dihydrocodeine, phenylpropanolamine, and chlorpheniramine) were identified and quantitated in blood, urine, and stomach contents. Although each drug was present in a very small quantity, the cause of death was determined to be the combination of these drugs and alcohol poisoning.

Adult↗

PubMedDate not supplied

Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults.

PURPOSE: To clarify the clinical profiles of adolescents and young adults with tetralogy and 22q11.2 deletion, which has recently been identified as a cause of tetralogy of Fallot in about 15% of patients. METHODS: Thirty-four patients with 22q11.2 deletion and tetralogy of Fallot, with or without pulmonary atresia, including 15 males and 19 females, with their age ranging from 16 to 35 years (mean = 25) were studied. Main outcome measurements include chromosome deletion identified by fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes, medical states assessed with New York Heart Association classification, social activity assessed with Warnes index, IQ assessed by Wechsler test. RESULTS: Eighteen of 20 patients with tetralogy and pulmonary stenosis had cardiac repair, and their cardiac conditions were good except one. Of 14 patients with tetralogy with pulmonary atresia, 7 had Rastelli type cardiac repair and were doing well, although 4 of them needed re-operation for conduit stenosis. No cardiac repair was done in the other 7 patients with tetralogy, pulmonary atresia and major collateral arteries because their peripheral pulmonary arteries were too small. In 28 of the 34 patients (82%), overall social activity was limited because of extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia. The IQ in 17 patients was 59 +/- 13 (mean +/- SD): range 41 to 79. In two patients, repeated IQ study showed a decrease. Four patients developed schizophrenia. CONCLUSION: Tetralogy with 22q11 deletion can be repaired surgically except in those patients with pulmonary atresia, major collateral arteries, and small peripheral pulmonary arteries. However, most of the adult patients show an inability to function in social life in contrast to most patients with tetralogy but without the deletion, who have a normal social life. Extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia were major handicaps limiting full social activities in postoperative adolescents and young adults with 22q11.2 deletion and tetralogy.

Adolescent↗

PubMedDate not supplied

Early-stage Alzheimer's disease and multiple subcortical infarction with mild cognitive impairment: neuropsychological comparison using an easily applicable test battery.

We conducted a neuropsychological study comparing early-stage Alzheimer's disease (AD; n = 22) and multiple subcortical infarction with mild cognitive impairment (MSI; n = 22) using an easily applicable test battery which included 8 tests. Two groups were matched for age, education and score on the Mini-Mental State Examination. Patients with AD had significantly lower scores than MSI patients in the delayed recall of the Rey-Osterrieth Complex Figure, while MSI patients had significantly worse scores in the Wisconsin Card-Sorting Test. This suggests that early discrimination of MSI from AD can be made by frontal system impairment in MSI and episodic memory disturbance in the visuospatial domain in AD using simple neuropsychological tests.

Aged↗

PubMedDate not supplied

Platelet function tests in thrombotic cerebrovascular disorders.

A variety of platelet function tests were performed in patients with four forms of obstructive cerebrovascular disease (CVD); transient ischemic attacks (TIA), reversible ischemic neurological deficit (RIND), cerebral infarct, and cerebral embolism of cardiac source in rheumatic valvular heart disease (RVHD). Platelet studies included platelet aggregation induced by ADP and ristocetin, spontaneous platelet aggregation, von Willebrand factor (VIII:vWF), platelet aggregation enhancing factor (PAEF), and percentage of large platelets (megathrombocytes). Serial testing was carried out in acute stroke patients. The effect of aspirin therapy was also evaluated. A clear difference in results was observed between patients with cardiogenic embolism and those with other forms of CVD. In patients with TIA, RIND, and cerebral infarct, platelet aggregation, both induced and spontaneous, was enhanced along with elevation of plasma VIII:vWF and PAEF, and increased percentage of megathrombocytes. In patients with cardiogenic embolism, however, these studies were negative except for percent megathrombocytes. This value was increased in the embolic patients with RVHD in comparison with non-embolic patients with RVHD. Increase in platelet aggregation to ADP and percent megathrombocytes developed slowly over a week following stroke. Induced and spontaneous platelet aggregation, and percent megathrombocytes could be normalized with 600 mg aspirin p.o. These studies suggest that a systemic increase of hyperaggregable platelets and of plasma activators of platelet function exists in thrombotic CVD and may be related to its pathogenesis, while local hemodynamic factors may be more important in the thrombogenesis of cardiogenic embolism.

Adult↗

PubMedDate not supplied

Acute painful neuropathy restricted to the abdomen following rapid glycaemic control in type 2 diabetes.

A 46-year-old Japanese man with type 2 diabetes mellitus, whose only diabetic complication was simple retinopathy, developed acute painful neuropathy. This presented as paresthesia and hyperesthesia restricted to the abdomen. The patient's haemoglobin A(1c) had dropped from 12% to 7.5% within 5 months, following a rapid improvement in glycaemic control. On investigation, there were no indications of disease in the intraabdominal area. Nerve conduction studies were consistent with mild sensorimotor peripheral and autonomic neuropathy. The patient required medication (mexiletine, sulpiride and imipramine hydrochloride) to control the pain. Four months after presentation, the symptoms showed a dramatic improvement and the treatment for pain relief was discontinued without any recurrence of paresthesia or hyperesthesia in the patient's abdomen. This was a very unusual case of diabetic post-treatment painful neuropathy in which the prominent features were severe pain, paresthesia and hyperesthesia restricted to the abdomen.

Abdomen↗

PubMedDate not supplied

Painful neuropathy with trigeminal nerve involvement in type 2 diabetes.

After several years of treatment for type 2 diabetes mellitus, a 69-year-old Japanese man developed an acute painful neuropathy, characterized by bilateral causalgia and dysaesthesia in his cheeks and around his eyes, typically 30 min to 3 h after meals. As his glycaemic control deteriorated, his haemoglobin (Hb) A1c level gradually increased from 7 - 8% to 10.3% and his symptoms became more severe. The pain radiated out along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve. The patient was treated with insulin therapy and his HbA1c level decreased from 10.3% to 6.8% within 7 months. Five months after initiating insulin therapy, his symptoms showed a dramatic improvement. This was a very unusual case of bilateral acute painful neuropathy that involved the ophthalmic and maxillary divisions of the trigeminal nerve, and in which aggravation of the symptoms clearly related to poor glycaemic control.

Aged↗