1/580. Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. This report concerns a 10-month-old boy, admitted to the veterans General Hospital-Kaohsiung with generalized tonic convulsion and aspiration pneumonia. He was found to have had developmental regression, progressive hypotonia and hepatosplenomegaly since four months of age. physical examination revealed a large head circumference (97th percentile), frontal bossing, depressed nasal bridge, hepatosplenomegaly, broad hands and short fingers. neurologic examination showed poor control of eye movement, profound hypotonia, muscle weakness, brisk deep tendon reflexes and Babinski's sign. Hypoplasia of the vertebral bodies with anterior beaking, wedge-shaped metacarpals, spatulated ribs and a J-shaped sella turcica were displayed on bone radiographs. Cranial computerized tomography scans showed diffuse brain atrophy, dilated ventricles and calcification of the bilateral basal ganglia. Vacuolated lymphocytes were noted in a peripheral blood smear. Type 1 GM1 gangliosidosis was diagnosed based on a deficiency of beta-galactosidase activity. To our knowledge, basal ganglia calcification in type 1 GM1 gangliosidosis has never been reported in the literature. We suggest that type 1 GM1 gangliosidosis be considered in the differential diagnosis of patients with an early onset of neurologic decline, organomegaly and basal ganglia calcification. ( info) |
| A 6-year-old girl underwent allogeneic BMT from a matched sibling donor for the treatment of Kostmann syndrome. She suddenly became drowsy on day 30 after BMT, and lost consciousness 2 days later. Cranial CT scan showed symmetrical lesions suggesting bilateral necrosis in the basal ganglia. Clinical and laboratory investigations failed to reveal any evidence of neurometabolic disease. ( info) |
3/580. tetany, tetanus or drug reaction? A case report. An 8-year-old child was given perphenazine to prevent vomiting after surgery and developed an acute dystonic reaction; There were features of both tetany and tetanus without any of the classical features of extrapyramidal disturbance. The diagnostic difficulties are discussed. The reaction was treated successfully with i.v. diazepam. The prescribing of anti-emetics after surgery is examined critically with special reference to children. ( info) |
4/580. basal ganglia germinoma with progressive cerebral hemiatrophy. The authors describe a 7-year-old Chinese-American female with a germinoma of the basal ganglia who presented with progressive hemiparesis and cerebral hemiatrophy. The additional finding of markedly elevated antiphospholipid antibodies suggests the possibility of an autoimmune pathogenesis for the progressive cerebral atrophy, as well as the later development of cognitive decline, tics, and obsessive-compulsive behaviors. ( info) |
| The tau gene has been found to be the locus of dementia with rigidity linked to chromosome 17. Exonic and intronic mutations have been described in a number of families. Here we describe a P301S mutation in exon 10 of the tau gene in a new family. Two members of this family were affected. One individual presented with frontotemporal dementia, whereas his son has corticobasal degeneration, demonstrating that the same primary gene defect in tau can lead to 2 distinct clinical phenotypes. Both individuals developed rapidly progressive disease in the third decade. Neuropathologically, the father presented with an extensive filamentous pathology made of hyperphosphorylated tau protein. Biochemically, recombinant tau protein with the P301S mutation showed a greatly reduced ability to promote microtubule assembly. ( info) |
| A previously healthy 16-month-old Korean girl with symptoms of fever, vomiting, and generalized tonic seizure was diagnosed to have Group D non-typhoid salmonella meningitis. The patient was treated with ceftriaxone (100 mg/kg/day) and amikin (22.5 mg/kg/day) initially and ciprofloxacin (30 mg/kg/day) was added later because of clinical deterioration and disseminated intravascular coagulation. brain CT performed on the second day showed a well-demarcated low density lesion in the right lentiform nucleus and both caudate nuclei, without evidence of increased intracranial pressure. MRI performed on the 11th day confirmed CT scan findings as well as right subdural fluid collection, brain atrophy, and ventriculomegaly. She underwent subdural drainage and later ventriculo-peritoneal shunt operation. Despite receiving intensive treatment, she still has severe neurologic sequelae. Our case shows that infarctions of basal ganglia and thalami are not specific for tuberculous meningitis and that meningitis complicated by infarction is indicative of grave prognosis. ( info) |
7/580. Extrapyramidal side-effects from droperidol mixed with morphine for patient-controlled analgesia in two children. We report two cases of extrapyramidal reactions occurring in children following the use of droperidol in combination with morphine for patient-controlled analgesia (PCA). Symptoms appeared 38 and 27 h, respectively, after commencement and after a total dose of 0.14 mg.kg-1 and 0.17 mg.kg-1, respectively. Although effective and safe in adult patients, we recommend caution with the use of droperidol-morphine mixtures for PCA in paediatric patients. ( info) |
8/580. Cerebellar and basal ganglion involvement in Langerhans cell histiocytosis. Langerhans cell histiocytosis (LCH) is a disease of unknown cause characterised by proliferation of histiocytic granulomas in tissues; the primary cerebral manifestation is diabetes insipidus caused by hypothalamic infiltration. We present a patient in whom, except for the absence of high signal on T1 weighting in the posterior pituitary, consistent with central diabetes insipidus, MRI showed no evidence of hypothalamic involvement by histiocytosis, despite the long duration of the disease. However, there was bilateral, symmetrical involvement of the cerebellum and globus pallidus in addition to a calvarial lesion. High signal in the cerebellar white matter on T2-weighted images may represent demyelination, gliosis and cell loss, as previously reported on pathologic examination. ( info) |
| Two women (patient 1, 77 years old, and patient 2, 63 years old) with strong clinical evidence for corticobasal degeneration (CBD) are presented. Patient 2 was in an early stage of the disease with only a mild disability of her left hand. In addition to the clinical characteristics, both patients presented the typical cortical reflex myoclonus. magnetic resonance imaging studies for both patients revealed nearly identical hyperintense lesions somatotopic from the left-hand primary motor cortex (M1), extending to the midline and possibly supplementary motor area (SMA) in patient 2. To our knowledge, this has not been previously described in patients with CBD. These lesions may play a role in the etiology and the development of CBD with involvement of the M1 and may correspond to the underlying pathology of demyelination or gliosis. ( info) |
10/580. motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration. The frontotemporal dementias are a group of relatively new and evolving clinical and pathologic entities. The predominant frontal-temporal atrophy causes a variety of clinical syndromes, usually dominated by disturbances in behavior, mood, and speech. The motor neuron disease-inclusion dementia (MNDID) subtype is characterized by the accumulation of specific intraneuronal ubiquitin-immunoreactive inclusions with the complete absence of tau immunoreactivity. We present a patient with the clinical and neuroimaging characteristics of a highly asymmetric neurodegenerative condition distinguished by limb rigidity, bradykinesia, dystonia with an alien limb phenomenon, cortical sensory findings, and limb apraxia. His premorbid diagnosis was cortical-basal ganglionic degeneration but he had the typical histologic features of a frontotemporal dementia of the MNDID subtype. ( info) |