Bilateral Striatal Necrosis Research Articles

Treatment of dystonia in striatal necrosis caused by Mycoplasma pneumoniae

We report on an 8-year-old male with bilateral striatal necrosis secondary to Mycoplasma pneumoniae respiratory infection. This patient has been remarkable for persistent severe dystonia that has been difficult to treat. We share our experience of beneficial responses to multimodal treatment, including moderate doses of trihexyphenidyl, botulinum toxin, and intrathecal baclofen.

Pathogenesis of primary defects in mitochondrial ATP synthesis

Maternally inherited mutations in the mtDNA-encoded ATPase 6 subunit of complex V (ATP synthase) of the respiratory chain/oxidative phosphorylation system are responsible for a subgroup of severe and often-fatal disorders characterized predominantly by lesions in the brain, particularly in the striatum. These include NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited Leigh syndrome), and FBSN (familial bilateral striatal necrosis). Of the five known pathogenic mutations causing these disorders, four are located at two codons (156 and 217), each of which can suffer mutations converting a conserved leucine to either an arginine or a proline. Based on the accumulating data on both the structure of ATP synthase and the mechanism by which rotary catalysis couples proton flow to ATP synthesis, we propose a model that may help explain why mutations at codons 156 and 217 are pathogenic.

An Infant with Velopharyngeal Incompetence Associated with Bilateral Striatal Necrosis

An Infant with Velopharyngeal Incompetence Associated with Bilateral Striatal Necrosis

Transient seizure disappearance due to bilateral striatal necrosis in a patient with intractable epilepsy

An 8-year-old girl had suffered from intractable epilepsy due to cortical dysplasia. She developed mycoplasma pneumonia with massive pleural effusion. Fever continued for 3 weeks. Four weeks after the onset of this infection, she suddenly developed horizontal nystagmus, ataxia, choreoathetotic movements and confusion. CT disclosed swelling and low density of the heads of the caudate nuclei and putamina bilaterally. MRI revealed areas of symmetrical high intensity in the striatum on T2-weighted imaging. These lesions were thought to comprise bilateral striatal necrosis (BSN) mediated by the mycoplasma infection or Wernicke encephalopathy. Six months later, she had completely recovered clinically. During the 6 months after BSN, she did not have any epileptic seizures. Her epileptic seizures reappeared thereafter at a lower frequency. The striatum may be involved in the propagation pathway for epileptic seizure activity in this patient.

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome

Among 80 patients with the clinical and brain imaging characteristics of Leigh's syndrome, 11 patients had a well-known mutation at nucleotide position (nt) 8993 in mitochondrial DNA. In addition, three patients had a T-to-C mutation at nt 9176 which had been described previously in only two brothers with bilateral striatal necrosis and one patient with Leigh's syndrome. In our three patients, one had the typical clinical characteristics of Leigh's syndrome from early infancy, and two had the later onset of neurological deficits. All had a slowly progressive course and basal ganglia abnormalities by neuroimaging. As nt 8993 and 9176 are located in the ATPase 6 coding region, altered ATPase function may be one of the enzyme abnormalities in Leigh's syndrome and other similar conditions with bilateral striatal necrosis.

Bilateral Striatal Necrosis and MELAS Associated with a New T3308C Mutation in the Mitochondrial ND1 Gene

We found a novel maternally inherited T3308C mutation in the mtDNA ND1 gene in a patient with bilateral striatal necrosis and stroke-like episodes. Muscle biopsy from the proband showed mitochondrial proliferation in blood vessels and normal respiratory chain activities. The mutation, which was not present in 100 normal controls or in 30 patients with mitochondrial disease, was heteroplasmic in both muscle and blood of the proband and in blood from her asymptomatic mother. This mutation results in a Met → Thr change at the highly conserved amino acid position 1. The T3308C mutation may alter the hydrophobicity and antigenicity of the N-terminal peptide of ND1.

Necrose estriatal bilateral aguda infantil.

This paper describes the clinical case of a nine year old child clinical features of tetraparesis and acute encephalopathy after an infectious disease. The brain magnetic resonance imaging was compatible with a symmetrical bilateral necrosis of the brain nucleus which, associated with the clinical evolution, led to the diagnosis of acute bilateral infant striatal necrosis.

Acute encephalopathy with bilateral striatal necrosis: favourable response to corticosteroid therapy

A case of acute encephalopathy with selective bilateral symmetrical striatal lesions is reported. The patient was a previously healthy 4-year-old boy who became obtunded after a febrile illness and fell into a state of delirium with severe pain in the feet. He showed abnormal postures: hyperextension of the neck and upper limbs and extreme flexion of both lower limbs, and abnormal involuntary movements of the limbs: tremor, athetotic movement and right hemiballismus. Analysis of serum antibody titres suggested recent primary infection of herpes simplex type 1 (HSV-1). Cranial T2-weighted magnetic resonance imaging (MRI) demonstrated areas of high-signal intensity involving the whole basal ganglia bilaterally. He showed rapid clinical improvement after the initiation of corticosteroid therapy; complete clinical recovery was noted 3 months after the onset. Serial MRI studies demonstrated a rapid reduction of the lesions, resulting in only slight T2-hyperintense areas in both caudate nuclei. The pathogenesis of the disorder remains unknown, though an autoimmune mechanism has been speculated. The clinical and laboratory findings in this case suggested a possible role of HSV-1 in the pathomechanism of the disorder and a beneficial effect of early corticosteroid therapy.

Nécrose aiguë des noyaux gris d'évolution favorable lors d'une encéphalite à mycoplasme

Background. — Acute bilateral striatal necrosis complicating the course of a post-infectious encephalitis is rare. Case report. — A previously healthy 5-year-old boy presented with an atypical pneumonia; he rapidly developed encephalitis revealed by a generalized status epilepticus. After transient improvement, he became confused and mutic, with dystonic postures of his limbs. Painful stimulation resulted in prolonged facial grimacing and doleful cry. CT scan and MRI showed abnormal signals in the whole basal ganglia, typical of bilateral striatal necrosis. Serologic tests for Mycoplasma pneumoniae were positive. The child recovered almost completely. Conclusion. — A parainfectious process is probably responsible for the transient bilateral striatal necrosis seen in this patient who had Mycoplasma pneumoniae infection several days before the onset of neurologic symptoms. MRI seemed more reliable than CT-scan for the diagnosis of this condition.

Serial imaging of bilateral striatal necrosis associated with acidaemia in adults

Serial imaging of bilateral striatal necrosis associated with acidaemia in adults

Familial Dystonia and Choreoathetosis in Three Generations Associated With Bilateral Striatal Necrosis

Nine cases of dystonia and choreoathetosis (six females and three males) have developed in three generations of a single family. There has been one death. Neuropathologic examination disclosed bilateral striatal necrosis. In this family, the neurologic disorder has evolved gradually or in association with a febrile illness. There has been no neurologic recovery. The disease is worse in females, has been transmitted only through females, and shows incomplete penetrance and anticipation. The maternal inheritance pattern suggests either an autosomal dominant trait also affecting male reproductive ability or a defect involving the mitochondrial genome.

Bilateral striatal necrosis following acute encephalopathy

Bilateral striatal necrosis following acute encephalopathy

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified. This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene. The mutation was nearly homoplasmic and maternally inherited. This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration. It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtARPase; and therefore the mtATPase genes should be examined in children with this condition.

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

A T-to-C transition at nucleotide (nt) 9176 in the mitochondrial adenosine triphosphatase 6 (ATPase 6) gene was detected in 2 brothers with a neurological disorder resembling Leigh syndrome. The mutation was also present in the 2 other siblings and in the mother, who were asymptomatic. In the more severely affected boy (the proband), the mutation was homoplasmic in muscle, leucocytes, and fibroblasts. In leucocytes from his affected brother, 98% of mtDNA was mutant. Heteroplasmy of varying degrees was seen in leucocytes from the mother and the 2 unaffected siblings. The mutation changes a highly conserved leucine residue near the carboxyl terminus of the mitochondrial ATPase 6 subunit to proline. It could not be detected in 168 control subjects. Studies of ATP synthesis and hydrolysis in fibroblasts from the proband were normal.

Consistent striatal damage in rats induced by 3-nitropropionic acid and cultures of arthrinium fungus.

Arthrinium fungi were cultivated from the samples of mildewed sugarcane which caused acute encephalopathy and delayed dystonia in children. The Arthrinium cultures (AC) contained 5 mg/ml 3-nitropropionic acid (3-NPA) after being inactivated and concentrated. A neuropathological study was carried out in rats intoxicated with 3-NPA and AC, respectively. Consistent bilateral striatal necrosis was found in rats with both poisonings, and the severity was well correlated with persistent recumbency which was a clinical indicator of the development of morphological brain lesions. A reproducible animal model of striatal damage has been produced in rats by IP injections of 10 mg/kg 3-NPA, 6 times a day, with an interval of 1.5 h for 3-5 days. The clinical and neuropathological manifestations in rats dosed with AC were nearly the same as those dosed with 3-NPA. The striatal lesions induced by 3-NPA and AC in poisoned rats were in accordance with the bilateral lenticular hypodensity found by CT scanning in patients of mildewed sugarcane poisoning with delayed dystonia. This neuropathological evidence supports previous epidemiological and mycological findings which indicate that 3-NPA is the possible pathogen of acute mildewed sugarcane poisoning.

Movement disorders in childhood organic acidurias Clinical, neuroimaging, and biochemical correlations

Over the last 5 years the Pediatric Neurology service at King Faisal Specialist Hospital and Research Centre (KFSH&RC) has seen 131 infants and children with movement disorders. Forty-nine (37%) had identifiable biochemical defects, 25 of which were organic acidemias. Nineteen of 29 patients with dystonia had organic acidemias, primarily glutaric aciduria type 1 (7 patients), bilateral striatal necrosis (4 patients), and 3-methyl glutaconic aciduria (3 patients). All patients with parkinsonian rigidity (n = 11) had organic acidemias; again, the greatest number accounted for by glutaric aciduria type 1 (7 patients), who had both parkinsonian rigidity combined with dystonia. Myoclonus occurred in only 1 of 25 and chorea in 7 of 25 patients with organic acidemias. At the least all patients had bilateral lesions of putamen and head of caudate, seen best in MRI brain scans as increased T2 signal intensities with normal volume, and later with volume loss.

A new patient with α-ketoglutaric aciduria and progressive extrapyramidal tract disease

A 4.5-year-old boy with chronic progressive encephalopathy is described. The clinical presentation initially included seizures and hypotonia which later evolved into severe extrapyramidal disease and dementia. The gas chromatography/mass spectrometry (GC/MS) analysis of urine indicated that alpha-ketoglutarate was increased 210 times and aconitic acid 80 times. No disturbance of acid/base balance, lactic acid or ammonia metabolism accompanied this clinical picture. The fibroblasts contained 29% of normal alpha-ketoglutarate dehydrogenase activity, while the activity of another mitochondrial marker enzyme, glutamate dehydrogenase, was normal. The neuroimaging studies revealed bilateral striatal necrosis. The clinical and biochemical findings were almost identical to two previously reported patients. Experience with this patient emphasizes the need for detailed organic acid biochemical investigation in any progressive encephalopathy and that extrapyramidal tract signs should evoke the possibility of alpha-ketoglutaric aciduria, among other 'neurologic organic acidemias'.

Serial MRI in infantile bilateral striatal necrosis

A 3-year-old girl with left hemiparesis suffered from bilateral paresis, motor rigidity, gait disturbance, axial hypotonia, dysarthria, apathy, and incontinence. After steroid therapy, mild improvement occurred, but muscle weakness, gait disturbance, and rigidity remained. Leigh encephalopathy was excluded on the basis of muscle biopsy and laboratory findings. Computed tomography and serial magnetic resonance imaging at an early stage revealed right-sided dominant lesions in the putamen and caudate nucleus and later bilateral striatal lesions, appearing as hyperintense signals on T 2-weighted images and mixtures of hypo- and hyperintense signals on T 1-weighted images. This is the first demonstration of serial magnetic resonance imaging findings in infantile bilateral striatal necrosis.

Infantile bilateral striatal necrosis: chronic and acute manifestations in a single case

We report a girl who exhibited a slowly progressive extrapyramidal disorder with onset in early infancy. CT examinations demonstrated progressive atrophy of the cerebrum. At the age of 6 years, acute exacerbation occurred with impairment of consciousness and automomic functions. During the acute episode, CT revealed lesions in the bilateral striatum and globus pallidus.

Acute bilateral striatal necrosis associated with mycoplasma pneumoniae infection

Acute bilateral striatal necrosis associated with mycoplasma pneumoniae infection