Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia

Roodhooft, A. M.; Baumgartner, E. R.; Martin, Jean‐Jacques; Blom, W.; Acker, K. J. Van

doi:10.1007/bf01957698

Cited by 39 publications

(16 citation statements)

References 8 publications

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“…[12][13][14][15][16][17][18][19][20][21] However, the analysis presented here is the first systematic study of GP imaging findings in a large group of patients with MMA, to our knowledge. This analysis also identified the previously unrecognized association of lacunar infarcts in the SNr with isolated MMA.…”

Section: Discussionmentioning

confidence: 99%

“…Despite vigilant dietary and metabolic management, patients with MMA experience multisystem disease, including metabolic instability, pancreatitis, 9 renal failure, 9,10 intellectual impairment, 9,11 growth retardation, 9 optic nerve atrophy, 9 and acute injury to the globus pallidus. [12][13][14][15][16][17][18][19][20][21][22] Some patients eventually require liver and/or kidney transplantation. Most globus pallidus (GP) strokes are unilateral lacunar infarcts resulting from thromboembolic occlusion of a lenticulostriate artery; therefore, their margins reflect the vascular territory rather than the anatomic boundaries of the GP.…”

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confidence: 99%

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MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

Baker

Sloan²,

Hauser

et al. 2014

American Journal of Neuroradiology

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BACKGROUND:Bilateral infarcts confined to the globus pallidus are unusual and occur in conjunction with only a few disorders, including isolated methylmalonic acidemia, a heterogeneous inborn error of metabolism. On the basis of neuroradiographic features of metabolic strokes observed in a large cohort of patients with methylmalonic acidemia, we have devised a staging system for methylmalonic acidemia-related globus pallidus infarcts.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

Baker

Sloan²,

Hauser

et al. 2014

American Journal of Neuroradiology

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“…Bilateral basal ganglial necrosis is known to occur after a variety of episodes, such as non-specific febrile upper respiratory infection, 1,2 cardiopulmonary arrest, 3,4 asthma attacks, 5 hemolytic-uremic syndrome, 6 and wasp sting. 7 Several metabolic diseases [8][9][10] are also known to cause similar lesions. Some cases of this CNS disorder in children have been reported as infantile bilateral striatal necrosis (IBSN), which has a preceding febrile episode followed by abrupt stupor and seizures.…”

Section: Discussionmentioning

confidence: 99%

Bilateral basal ganglial necrosis after allogeneic bone marrow transplantation in a child with Kostmann syndrome

Suga

Nagatoshi

Gondou

et al. 1999

Bone Marrow Transplant

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Summary: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. Keywords: bilateral basal ganglial necrosis; allogeneic BMT; Kostmann syndrome Acute encephalopathy with symmetrical lesions in the basal ganglia is a rare neurological disease. Generally either a preceding illness or underlying metabolic disease exists in most reported cases. Bilateral basal ganglial necrosis, especially infantile striatal necrosis has been reported to occur often after a non-specific febrile upper respiratory infection. We describe a child who experienced this disease after allogeneic BMT without any definite preceding episodes or metabolic disorders, and presently suffers from severe neurological sequelae. Case reportA neurologically normal 6-year-old girl underwent allogeneic BMT for Kostmann syndrome from an HLA-identical sibling donor. Conditioning consisted of busulphan 35 mg/m 2 p.o. four times daily from day −9 to day −6, ATG 2.5 mg/kg i.v. daily and cyclophosphamide 50 mg/kg i.v. daily from day −5 to day −2. She developed a high grade fever and generalized tonic clonic seizure for a few minutes during the first administration of ATG on day −5. No neurological sequelae could be found after the seizure resolved. She had no past history of febrile convulsions or epilepsy. Initially phenytoin 10 mg/kg i.v. was given twice Correspondence: Dr J Okamura, Institute for Clinical Research, National Kyushu Cancer Center, 3-1-1, Notame, Minami-ku, Fukuoka, 811-1395, Japan Received 26 May 1998; accepted 3 October 1998 daily for seizure prophylaxis from day −9. Hydrocortisone 125 mg i.v. was added as an antipyretic and no seizure occurred thereafter. Cyclosporin A was used for graftversus-host disease prophylaxis.Engraftment was confirmed on day 12 after BMT when the neutrophil count reached 500/ l. The patient experienced asymptomatic mild hyponatremia which started on day 11 and lasted for 30 days. The serum sodium concentration varied between 121 to 133 milliequivalents per liter (mEq/l). The syndrome of inappropriate secretion of antidiuretic hormone (SIADH) was thus suspected because her urinary osmolarity and serum antidiuretic hormone levels were normal although the plasma osmolarity was mildly decreased below the normal limits. Hyponatremia resolved on day 41 with water restriction and a half correction of sodium. The patient suddenly became drowsy on day 30 and lost consciousness 2 days later. No preceding episodes including fever, vomiting, or seizures were observed. A neurological examination on day 32 showed a comatous state of consciousness without any response to painful stimulation except for slight movement of the left upper limb. The patient remained in the supine position, and showed an asymme...

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“…This suggests that the damage to the basal ganglia results from a chronic process rather than from an acute one. Accumulation of O L C F A within the basal ganglia was demonstrated in a patient with a vitamin B12-dependent type of M M A [5]. In our patient high urinary excretion of M M A occurring even during states of metabolic equilibrium reflects poor metabolic control.…”

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confidence: 89%

“…Acute episodes of metabolic decompensation manifest with vomiting, drowsiness, ketoacidosis and hyperammonaemia. Persistent neurological signs, mainly extrapyramidal, have been reported in some patients with M M A [3,[4][5][6].…”

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confidence: 97%

Asymptomatic lesions of the basal ganglia in a patient with methylmalonic aciduria

et al. 1992

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920Martinez-Frias, however, reported two cases of postaxial polydactyly as result of valproic acid mono therapy (one) and valproic acid in combination with carbomazepine (one) [1]. It is not clear whether these children had associated anomalies. Polydactyly must be added to the spectrum of limb defects caused by valproic acid. In our patient as in most patients also the preaxial side of the upper limb is involved. The mechanism of this predilection is unclear. References1. Martinez-Frias ML (1990) We observed a patient with M M A diagnosed at the age of 3 weeks by highly elevated urinary concentrations of methylmalonic acid (11 tool/tool creat). Enzyme studies in cultured flbroblasts indicated a rout 0 genotype. His dietary intake of natural protein was 0.8-1.2g/kg per day and carnitine was supplemented in doses of 50-100 mg/kg per day. During metabolic equilibrium urinary methylmalonic acid excretion ranged between 0.5 and 22 mol/mol creatinine (mean value = 10.5 tool/ mol creatinine, n = 14). Until 7 years of age he had nine episodes of metabolic decompensation characterised by vomiting, refusal to take oral fluids and metabolic acidosis. Laboratory findings during these episodes included mildly decompensated metabolic acidosis, plasma concentrations of ammonia and lactic acid were mildly elevated on one occasion. Urinary methylmalonic acid excretion ranged between 12 and 23 mol/mol creatinine (mean value = 17.6mol/mol creat, n = 7). A n episode at the age of 36 months was the only one to be accompanied by reduced consciousness without neurological signs. Methylmalonic acid excretion was 20mol/mol creatinine. Brain MRI at the age of 4.5 and 6.5 years revealed symmetrical lesions within the central parts of the basal ganglia (globus pallidus) (Fig. 1), These lesions were never complicated by corresponding neurological signs. There is evidence of intellectual Abbreviations: MMA = methylmalonic aciduria; OLCFA = odd numbered long-chain fatty acids

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Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia

Cited by 39 publications

References 8 publications

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

Bilateral basal ganglial necrosis after allogeneic bone marrow transplantation in a child with Kostmann syndrome

Asymptomatic lesions of the basal ganglia in a patient with methylmalonic aciduria

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