Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.

RATIONALE: Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium. PATIENT CONCERNS AND DIAGNOSES: A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection. The son of the patient was also examined and was diagnosed as pseudohypoparathyroidism, who had ever complained of the history of epilepsy. The clinical manifestations of parkinsonism of the patient was reevaluated after the supplement of serum calcium according to the diagnosis. INTERVENTIONS AND OUTCOMES: The brain computed tomography revealed the basal ganglia calcification of the patient, accompanying by serum hypocalcemia and hyperphosphatemia. Loss of function mutation also confirmed the diagnosis. Five days after the therapy targeting at correction of serum hypocalcemia, the patient improved greatly in dyskinesia. LESSONS: This study reported a patient presenting as acute reversible parkinsonism, who was finally diagnosed as pseudohypoparathyroidism. It indicated us that secondary parkinsonism should be carefully differentiated for its dramatic treatment effect. And the family history of seizures might be an indicator for the consideration of pseudohypoparathyroidism.

[Psychosis Associated With Fahr's Syndrome: A Case Report]. / Psicosis asociada con síndrome de Fahr: informe de un caso.

INTRODUCTION: Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. OBJECTIVE: The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. METHOD: Case report. RESULTS: The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. CONCLUSIONS: Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient.

Motor cortex stimulation does not improve dystonia secondary to a focal basal ganglia lesion.

OBJECTIVE: To assess the efficacy of epidural motor cortex stimulation (MCS) on dystonia, spasticity, pain, and quality of life in patients with dystonia secondary to a focal basal ganglia (BG) lesion. METHODS: In this double-blind, crossover, multicenter study, 5 patients with dystonia secondary to a focal BG lesion were included. Two quadripolar leads were implanted epidurally over the primary motor (M1) and premotor cortices, contralateral to the most dystonic side. The leads were placed parallel to the central sulcus. Only the posterior lead over M1 was activated in this study. The most lateral or medial contact of the lead (depending on whether the dystonia predominated in the upper or lower limb) was selected as the anode, and the other 3 as cathodes. One month postoperatively, patients were randomly assigned to on- or off-stimulation for 3 months each, with a 1-month washout between the 2 conditions. Voltage, frequency, and pulse width were fixed at 3.8 V, 40 Hz, and 60 µs, respectively. Evaluations of dystonia (Burke-Fahn-Marsden Scale), spasticity (Ashworth score), pain intensity (visual analog scale), and quality of life (36-Item Short Form Health Survey) were performed before surgery and after each period of stimulation. RESULTS: Burke-Fahn-Marsden Scale, Ashworth score, pain intensity, and quality of life were not statistically significantly modified by MCS. CONCLUSIONS: Bipolar epidural MCS failed to improve any clinical feature in dystonia secondary to a focal BG lesion. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that bipolar epidural MCS with the anode placed over the motor representation of the most affected limb failed to improve any clinical feature in dystonia secondary to a focal BG lesion.

Combined treatment of quetiapine with haloperidol in animal models of antipsychotic effect and extrapyramidal side effects: comparison with risperidone and chlorpromazine.

RATIONALE: Quetiapine, an atypical neuroleptic, has beneficial antipsychotic effects in schizophrenic patients, but with a lower incidence of extrapyramidal symptoms (EPS) compared with typical antipsychotics. While typical antipsychotics are often switched to atypical agents when adverse effects become limiting, there is little preclinical information to support this strategy, both in terms of efficacy and side effects. OBJECTIVES: The antipsychotic effects and EPS during concomitant administration of quetiapine with haloperidol, a typical antipsychotic agent, were evaluated in mice and compared with chlorpromazine and risperidone. METHODS: We first investigated the antipsychotic effects and EPS liability of quetiapine, risperidone, chlorpromazine, and haloperidol when administered alone to select optimal doses for subsequent combination studies. The second study was designed to evaluate the antipsychotic efficacy and EPS profile of concomitant administration of quetiapine, risperidone, or chlorpromazine with haloperidol. Antipsychotic effects were evaluated with the methamphetamine-induced hyperlocomotion test, and EPS liability was evaluated in a catalepsy-induction model. RESULTS: Quetiapine, risperidone, chlorpromazine, and haloperidol dose-dependently reduced methamphetamine-induced hyperlocomotion, with ED50 values of 5.6, 0.020, 1.8, 0.035 mg/kg, respectively. In the catalepsy test, quetiapine only weakly induced catalepsy at the highest dose of 100 mg/kg, whereas risperidone, chlorpromazine, and haloperidol dose-dependently induced catalepsy with ED50 values of 0.25, 4.6, and 0.10 mg/kg, respectively. While the combination of quetiapine (6 mg/kg) and haloperidol (0.04 mg/kg) significantly reduced methamphetamine-induced hyperlocomotion in comparison with haloperidol alone, quetiapine (10, 32 mg/kg) plus haloperidol did not potentiate the cataleptogenic activity of haloperidol. In contrast, risperidone (0.1, 0.32 mg/kg) or chlorpromazine (3.2 mg/kg) significantly augmented catalepsy induced by haloperidol. Catalepsy induced by co-administration of quetiapine (10 mg/kg) and haloperidol (0.1 mg/kg) was significantly potentiated by WAY100635, a 5-HT1A antagonist, and catalepsy induced by co-administration of risperidone (0.1 mg/kg) and haloperidol (0.1 mg/kg) was significantly antagonized by 8-OH-DPAT, a 5-HT1A agonist. CONCLUSION: The present study demonstrated that the combined administration of quetiapine with haloperidol did not aggravate EPS, possibly because of its affinity for 5-HT1A receptors. This finding may have the clinical implication that quetiapine could provide a successful regimen in switching from typical antipsychotic agents in the symptom management of schizophrenia, or even in adjunctive therapy with other antipsychotic agents.

[A case of symptomatic paroxysmal kinesigenic dsykinesia with primary central nervous system lymphoma]. / Paroxysmale Dyskinesien. Kasuistik eines Patienten mit symptomatischer paroxysmaler kinesigener Dyskinesie bei primärem ZNS-Lymphom.

Paroxysmal dyskinesias are rare movement disorders. In one fourth of cases, a symptomatic cause can be found, e.g., brain ischemia or inflammatory diseases. We report a unique case of secondary paroxysmal kinesigenic dyskinesia (PKD). The 37-year-old patient suffered from a primary CNS lymphoma invading the right thalamus. Consecutively, he showed dystonic-athetoid movements in the left half of the body. The involuntary movements had a duration of approximately 20 s and occurred more than 100 times per day. Carbamazepine treatment showed excellent results. This is the first reported case of a symptomatic paroxysmal dyskinesia induced by a primary CNS lymphoma.

[The pathophysiological basis of dystonia]. / Bases fisiopatológicas de la distonía.

OBJECTIVE: We review the mechanisms that may involved in the pathophysiology of dystonia. DEVELOPMENT: The role of basal ganglia, spinal and brainstem interneurons, and primary motor cortex in dystonia will be discussed. Abnormalities in the discharge pattern of internal pallidum or thalamus, secondary to basal ganglia disorders might be the cause of disbalance between excitatory and inhibitory mechanisms in motor cortex. Other factors such as excessive repetition of a movement or abnormal sensory afferent discharges may be participating in cortical reorganization. CONCLUSIONS: Overlapping of the cortical representation of dystonic muscles due to enlargement of cortical maps could explain overflow and co-contraction phenomena. The study of the exact role of these factors in each type of dystonia is a challenge for the future that opens the door for new therapeutic approaches.

Posthemiplegic focal limb dystonia: a report of two cases.

Posthemiplegic focal limb or hemidystonias are rare movement disorders usually due to vascular lesions of the contralateral basal ganglia. The pathogenesis of posthemiplegic dystonia is unknown and its management is usually difficult. In this paper, we report two patients who suffered from a single limb dystonia and hemidystonia, respectively. In the latter patient, hemidystonia developed due to an ischaemic cerebrovascular accident 2 or 3 months after the recovery of hemiplegia. Computed tomography and magnetic resonance imaging scans showed evidence of contralateral putamen and thalamus infarcts.

In vivo quantitation of basal ganglia and thalamic degenerative changes in two temporal lobectomy patients with affective disorder.

The authors examined the brain magnetic resonance imaging scans of two epilepsy patients who had temporal lobectomies, one on the right and one on the left, with postoperative symptoms of affective disorders. Degenerative changes of ipsilateral thalamus and putamen after surgery, with coincident affective disorder, were noted. The authors discuss a possible relationship between postlobectomy degeneration and depression.

A case of adult onset pure pallidal degeneration. II. Analysis of neurotransmitter markers, with special reference to the termination of pallidothalamic tract in human brain.

We analyzed neurotransmitter markers in a brain of a very rare case of pathologically confirmed adult-onset pure pallidal degeneration (PPD) as compared with 16 controls. Neurotransmitter concentrations are significantly altered in the globus pallidus (GP), subthalamic nucleus (ST) and the thalamic nuclei. Concentrations of gamma-aminobutyric acid (GABA) in the external segment (GPe) and internal segment (GPi) of GP and ST are decreased to 62, 45 and 55% of the control mean, respectively. Concentrations of glutamic acid are increased in GPi (144%) and ST (134%). Choline acetyltransferase (ChAT) activities are increased in GPe (232%), GPi (218%), ST (161%), and ventroanterior (VA, 210%) and ventrolateral nucleus (VL, 193%) of the thalamus. Noradrenaline (NA) concentrations in GPe and GPi are 56 and 43% of the control mean, respectively. Dopaminergic and serotonergic systems show no remarkable change. The grid microdissection analysis demonstrates a patchy GABA distribution in the thalamus of 3 controls, whereas a small GABA-rich area in the ventro-oral nucleus (VO) according to the atlas of Hopf disappears in adult onset PPD. These results strongly suggest that (1) GP GABAergic neurons are selectively degenerated and striatopallidal GABAergic nerve terminals are hypoactive; (2) ChAT activities in GP, ST, VA and VL are increased; (3) the subthalamopallidal glutamatergic system is not hypoactive; (4) activity of the noradrenergic system in GP is decreased; and that (5) VO in the thalamus specifically receives GABAergic nerve terminals from GP in human brain.

[Disorders of the functional relations of the caudate nucleus and putamen as a possible cause of torsion muscular dystonia]. / Narushenie funktsional'nykh otnoshenii mezhdu khvostatym iadrom i skorlupoi kak veroiatnyi istochnik torsionnoi myshechnoi distonii.

In cats electrostimulation of nucleus caudatus and putamen produced contralateral rotation of the head which was used to simulate the extrapyramidal torsion disorders. Single or repeated injections of cataleptogenic neuroleptic drugs (haloperidol, metoclopramide) caused nonuniform changes of the thresholds of rotation induced by putamen stimulation. On the contrary, atypical neuroleptics (clozapine, sulpiride, tioridazine) facilitated equally both types of striatum-induced responses. The authors infer that acute muscular dystonia can result from disorder in intrastriatal relations between nucleus caudatus and puramen.

[Palpebral and cephalic oculomotor deficits in deep cerebral hematomas]. / Déficits des motricités oculaire palpébrale et céphalique dans les hématomes cérébraux profonds.

Oculomotor functions are analysed by clinical examination and oculography in 21 cases of deep cerebral hematoma. Significant paralysis of verticality and of movements contralateral to the lesions was observed in all cases where the hemorrhage affected the paramedian thalamo-subthalamic region. A slight deficit of elevation and controlateral movements was observed in the external thalamic and capsular hematomas. In the capsulolenticular hematomas the electro-oculographic record revealed discrete disturbances. It is concluded that the oculomotor examination provides important information about the topography of these cerebral hemorrhage and the functional role of the structures concerned. The examination shows the gravity of median lesions which frequently entail serious oculomotor sequelae.

Spasmodic torticollis: a behavioral perspective.

The literature on spasmodic torticollis is critically reviewed. The currently most popular etiological hypothesis characterizes torticollis as an extrapyramidal disorder, the symptoms of which are aggravated by stress, but there is no unequivocal evidence available to support this view. Psychological mechanisms have been suggested but not elaborated or tested in any detail. A wide range of treatments has been advocated but controlled studies have not been reported, and the problems of assessing outcome have never been tackled adequately. Behavioral treatments have been evaluated more rigorously than other approaches (particularly EMG feedback training), and the literature suggests that they benefit some patients. It is argued that psychologists have the potential for making a very significant contribution to the understanding and management of torticollis. In discussing outcome measures, the more promising techniques that have been used are summarized and a list is presented of the factors which must be considered when assessing torticollis symptoms. Directions for future research are outlined and priorities suggested.

Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome).

Computed tomography (CT) in patients with oculocraniosomatic disease (OCSD) or Kearns-Sayre syndrome has not been previously reported to the authors' knowledge. CT scans were performed in 6 children and 3 adults with OCSD. Abnormalities in children included: intracranial calcifications (4 patients); white matter disease (3 patients); cerebellar hypoplasia (1 patient); and scattered areas of decreased density in the cerebellar hemispheres, mesencephalon, and thalamus (1 patient). CT scans were normal in all adults. OCSD should be considered in the differential diagnosis in patients with intracranial calcification and white matter disease.