Ming-Yi Lin

Facioscapulohumeral muscular dystrophy: Muscle fiber type analysis with particular reference to small angular fibers

Muscle biopsies from 14 patients with facioscapulohumeral muscular dystrophy (FSHD) aged from 5 to 45 years were studied histochemically with fiber type analysis, focusing on small angular fibers (SAF) to clarify their significance. There were no duration-related or age-dependent histopathological differences between child and adult patients. Variations in fiber size and SAF were observed in all, myonecrosis with occasional phagocytosis in 10 and regenerating fibers in 12 biopsies. Cellular responses including inflammatory cell infiltration (7 biopsies) and connective tissue proliferation (8 biopsies), and fiber architectural changes (9 biopsies) were additional common findings. Although SAF are also commonly seen in patients with Kugelberg-Welander disease and amyotrophic lateral sclerosis, in FSHD they were mostly type 2C fibers which frequently exhibit alkaline phosphatase-positive activity. Therefore SAF in FSHD are mostly the products of a regeneration rather than denervation process.

Agenesis of internal carotid artery associated with symptomatic partial epilepsy.

Summary: An 8‐year‐old Chinese girl had a first episode of symptomatic partial epilepsy at age 2 years. Despite regular treatment with antiepileptic drugs (AEDs), the seizures remitted and exacerbated. Epileptiform EEG discharges were evident, arising from the left centroparietal region. Magnetic resonance imaging (MRI) and computed tomography (CT) scan of the temporal bone and cerebral angiography demonstrated absence of the left internal carotid artery and ipsilateral bony carotid canal. Perfusion brain single photon emission CT (SPECT) with [99mTc] HMPAO showed a perfusion defect at the left posterior temporoparietal lobe. Brain ischemia due to agenesis of the left internal carotid artery (ICA) was speculated as the cause of the partial epilepsy.

The Rett and Rett-like syndromes: A broad concept

Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for Disease Control, Atlanta, USA. The other four Rett-like patients were atypical in the sense that the manifestations were incomplete or psychomotor development throughout the first 6 months of life was abnormal or the disease was heralded by infantile spasms with transient stereotypic hand movements or the baby was born with congenital microcephaly. All eight patients were girls. No laboratory test result specific for the Rett syndrome or Rett-like syndrome was obtained.

Growth retardation as the initial manifestation of intracranial tumors: report of two cases

Two boys (9 years and 14 years old) were brought to visit our pediatric endocrine clinic with the chief complaint of short stature. Because of growth retardation, they were admitted for further evaluation. Physical examinations, including neurological examinations, were unremarkable but the laboratory examination confirmed the diagnosis of hypopituitarism in both patients. Skull radiography examinations showed some calcifications at suprasellar regions in the case 1 but negative findings in case 2. Furthermore, computed tomography (CT) of the head of case 2 performed at an outside hospital half a year before was reported to be normal, so case 2 fits the conventional diagnosis of idiopathic hypopituitarism. However, magnetic resonance image (MRI) study of the head disclosed that both of them are victims of an intracranial tumor, craniopharyngioma and germ cell tumors respectively. After surgical intervention, followed by radiotherapy, both patients were stable without any neurological deficit. Our experience confirmed that an MRI study of sellar region is warranted in search of the etiology of hypopituitarism.

Acute Hemiplegia in Infancy and Childhood

From 1982 to 1991, there were 57 patients diagnosed with various intracranial disorders manifested initially with acute hemiplegia at the Department of Pediatrics, National Taiwan University Hospital. There were 33 boys and 24 girls, aged 12 days to 18 years old. In etiological consideration, cerebrovascular disease (66.7%), intracranial tumors (12.3%) and head trauma (10.5%) accounted for most of the cases. Besides acute hemiplegia, cranial nerve palsy (47.4%), disturbed consciousness (42.1%), headache (42.1%), vomiting (31.6%), focal seizure (21.1%) and fever (21.1%) were also common manifestations. Neuroimage studies of CT/MRI scan and angiography were the most useful diagnostic tools. Treatment modalities included medical treatment in 25 patients and surgical intervention in 16 patients and supportive treatment in the others. There were 12 fatal cases, half of whom died directly of intracranial pathology. The survivors exhibited various neurological deficits, in which motor deficits, mental retardation, and subsequent seizures were the three most common sequelae.