Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy

We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions in the carpal, metacarpal and tarsal bones bilaterally and in the proximal end of the right femur. Skin biopsy showed subcutaneous and adipose tissue containing membranocystic structures. Cerebral MR and CT scans showed fronto-temporal atrophy, altered signal of the white matter and mineralization of the caudate and dentate nuclei. These findings strongly recall polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, but in the present case, bone alterations were not prominent; moreover, palatal myoclonus has never previously been described in this syndrome.     

Palatal myoclonus associated with extremity tremor

Summary Palatal myoclonus associated with extremity movements such as myoclonus or tremor is uncommon and reports are rare. Five patients with palatal myoclonus and a rest tremor are presented. In four patients, a slow rest tremor (3 Hz or less) was present. The tremor persisted on sustained posture and finger-to-nose maneuvers and was usually not synchronous with the palatal movements. It was not associated with clinical manifestations of Parkinson's disease and occurred in conjunction with brain-stem infarction in three patients.     

Electrophysiologic recordings in a patient with a discrete unilateral thalamic infarction

The electroencephalogram, and somatosensory and auditory evoked potentials were recorded from a patient, who, at necropsy, showed a restricted unilateral thalmic infarct involving predominantly the anterior and lateral thalamus. The electroencephalogram showed distinct monomorphic delta activity and a suppression of the alpha rhythm over the side of the lesion. Short latency somatosensory evoked potentials were present bilaterally; mid-latency somatosensory evoked potentials were absent ipsilateral to the lesion. Both mid-latency and long latency auditory evoked potentials were normal.     

Palatal myoclonus in postinfectious opsoclonus myoclonus syndrome : a case report.

An adult male presenting with acute onset opsoclonus, myoclonus and cerebellar ataxia is being reported. Patient had myoclonus involving limbs and palate. There are only a few reported cases associated with palatal myoclonus. Patient showed gradual spontaneous recovery. Possibility of underlying malignancy was excluded by detailed investigations.     

Palatal myoclonus in Krabbe disease.

A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electromyography showed rhythmical 2 Hz electrical activities. The MRI disclosed markedly attenuated intensity in the midbrain, pons and medulla oblongata on T2-weighted images. Palatal myoclonus was not controlled by carbamazepine in therapeutic doses, but disappeared when the patient was asleep. This is the first reported case of Krabbe disease with palatal myoclonus.     

Palatal myoclonus and opioid peptides

We report a patient who presented palatal myoclonus (PM) after anoxic brain damage that was completely abolished by the administration of opioid agonists. This suggests the involvement of peptide systems in the development of PM.     

Palatal myoclonus responding to carbamazepine

Congenital hemihypertrophy is a rare condition, occasionally associated with neoplasms on the affected side of the body. Investigation of three cases disclosed increased growth rate of cultured skin keratinocytes and fibroblasts and high skin temperature on the hypertrophic side. These observations suggest the oncogenic potential of the affected side in the condition.     

Palatal myoclonus responding to lamotrigine.

Palatal myoclonus (PM) is a rare neurological condition with no established treatment. We report on a case of PM with a good response to lamotrigine.     

Non-persistent "doll phenomenon" in a patient with right thalamic infarction]

An 81-year-old right-handed woman was admitted because of acute dysarthria and left hemiparesis. She had lived herself without aids until the admission. On neurological examination she was confused and disoriented. She was ambulant, but had mild dysarthria and mild left hemiparesis. Neuropsychological tests showed severe impairment of memory, mild impairment of visual cognition, decreased fluency of word recall and mild paramnesia, but no acalculia, agraphia, aphasia or apraxia. MRI of the brain showed small infarction in the right anterior thalamus. 123I-IMP SPECT demonstrated a decrease in CBF of the thalamus, basal ganglia and frontal lobe on the right. During admission, she always played with a doll as if she took it as a real baby. This peculiar symptom. "doll phenomenon" continued for approximately three months later. The "doll phenomenon" usually appears in demented patients with diffuse mental deterioration or dysfunction of the frontal lobe. The present patient had not been demented until the onset of the thalamic infarction, and disturbance of cognition caused by the right thalamic infarction probably produced the "doll phenomenon".