Myelopathy Due to Diffuse Thickening of the Cervical Dura Mater in Maroteaux-Lamy Syndrome: Report of a Case

Tamaki, Norihiko; Kojima, Noriaki; Tanimoto, Michinori; Suyama, Touru; Matsumoto, Satoshi

doi:10.1227/00006123-198709000-00027

Cited by 36 publications

(20 citation statements)

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“…Spinal cord compression is one of the major clinical complications of MPS disorders, especially MPS I, II, IV and VI and most frequently occurs at the atlantoaxial joints [15,16]. Storage of glycosaminoglycans in the dura mater and supporting ligaments, kyphoscoliosis, and cervical bony stenosis are thought to be the main causes of myelopathy in MPS I, II and VI patients [17,18]. Compressive cervical myelopathy is a critical problem since the involvement of neural structures at the bulbar-spine junction may lead to central respiratory failure [10].…”

Section: Discussionmentioning

confidence: 99%

Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II

Żuber¹,

Jurecka²,

Jurkiewicz³

et al. 2015

Pediatr Neurosurg

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Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (EC 3.1.6.13). The purpose of this report is to describe cervical spine magnetic resonance (MRI) findings in MPS II patients and to correlate them with clinical phenotype. Seven cervical spine MRI examinations from Polish MPS II patients (mean age 11.4 years, median age 8 years, range 5-30) were evaluated. Six patients were classified as neurological (85.7%) and 1 as attenuated (14.3%). Five patients were treated with idursulfase (range 110-260 weeks, mean 195, median 200), while 2 patients never received the treatment. The following features were assessed: periodontoid thickening, spinal stenosis, dens hypoplasia, myelopathy, and vertebral and intervertebral disc abnormalities. Mean age at evaluation was 11 years (range 5-30, median 8). Cervical spine MRI was abnormal in all the patients and the most frequent abnormalities found were dens hypoplasia (100%), periodontoid thickening (100%), disc abnormalities (100%) and spinal stenosis (43%). There was no clear correlation between MRI findings and patients' phenotypes.

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Section: Discussionmentioning

confidence: 99%

Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II

Żuber¹,

Jurecka²,

Jurkiewicz³

et al. 2015

Pediatr Neurosurg

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“…Narrowing of the vertebral canal, which is the reason for this complication, may be due to bony abnormalities, thickening of the meninges and spinal ligaments. Storage of GAGs in the dura mater and supporting ligaments, kyphoscoliosis, and cervical canal stenosis are thought to be the main causes of myelopathy in MPS VI patients [15,16]. …”

Section: Discussionmentioning

confidence: 99%

Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy

Jurecka

Opoka-Winiarska²,

Jurkiewicz³

et al. 2012

Pediatr Neurosurg

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The purpose of this report is to review the literature regarding spinal cord compression in mucopolysaccharidosis type VI (MPS VI), to discuss the possible impact of enzyme replacement therapy (ERT) and to stress the necessity of timely surgical intervention. A 9.5-year-old female patient with severe MPS VI had been receiving ERT since the age of 7. After 2.5 years of treatment, she developed craniovertebral canal stenosis with spinal cord compression and cervical myelopathy. Conclusions: (1) baseline cervical spine evaluation and regular neurological assessment should be performed in all MPS VI patients, (2) detailed neurological observation should be conducted in patients treated with ERT, especially in the period of improvement in the osteoarticular system, as ERT fails to prevent cervical myelopathy and (3) surgical decompression is required and in order to achieve a satisfying outcome it might be crucial to perform surgery at an early age.

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“…Em 50% dos pacientes a correção cirúrgica foi necessária para descompressão da medula. Outras complicações neurológicas têm sido descritas, como a hidrocefalia, tetraparesia espástica progressiva por mielopatia compressiva (14)(15)(16).…”

Section: Discussionunclassified

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação endócrina de três casos

Borges

Tavares

Silva

et al. 2003

Arq Bras Endocrinol Metab

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RESUMOMucopolissacaridose do tipo VI é uma doença de armazenamento lisossômico causada pela deficiência da enzima arilsulfatase B (ASB), de herança autossômica recessiva. Apresentamos os aspectos endócrinos de 3 casos: o primeiro foi diagnosticado numa menina de 6 anos e os outros em dois irmãos, um menino de 4,1 anos e uma menina de 2,9 anos. Nas 3 crianças observaram-se peso e altura normais ao nascimento, fenótipo compatível com mucopolissacaridose a partir dos 2 anos, associado a baixa estatura, sem retardo mental e com glicosaminoglicanos elevados na urina. O hGH estimulado pela clonidina (0,1mg/m 2 ) apresentou picos de 6,2, 5,6 e 4,6ng/ml nos casos 1, 2 e 3. Valores estímulados pela hipoglicemia foram de 30,3, 8,8 e 8,2ng/ml, respectivamente. IGF1 e IGFBP3 feitos nos casos 2 e 3 foram normais. Nos 3 casos, TSH, T 4 livre e anticorpos antitireoidianos foram normais, bem como cálcio e fósforo. Durante o seguimento do caso 2 foi detectada insuficiência adrenal secundária prontamente tratada. A idade óssea foi atrasada e a sela túrcica alargada ao RX de crânio. Ressonância magnética feita nos casos 2 e 3 revelou sela vazia. Como em outros nanismos dismórficos, não encontramos deficiências hormonais que pudessem justificar a baixa estatura. Mucopolysaccharidosis VI is a lisosomal storage disorder caused by deficiency of arylsulfatase B (ASB), inherited as an autosomal recessive trait. We investigated 3 such cases: the first was diagnosed in a 6-year old girl and the other two, a girl and boy siblings, were 2.9 and 4.1y, respectively. The children were normal at birth and the onset of clinical manifestations began at the age of 2y, associated with growth deficiency without mental deterioration. They were screened for inborn errors of metabolism and increased urinary levels of glycosaminoglycans were detected. A clonidine stimulation (0.1mg/m 2 ) for hGH gave peak levels of 6.2, 5.6 and 4.6ng/ml, in cases 1, 2 and 3. In response to insulin-induced hypoglycemia (0.1UI/kg), hGH peak values were 30.3, 8.8 and 8.2ng/ml, respectively. IGF1 and IGFBP3 in cases 2 and 3 were normal. In all, TSH, free T4, anti-TPO, anti-TG antibodies, Ca, and P were normal. On follow-up, secondary adrenocortical insufficiency was detected and treated in case 2. Delayed bone age and elongated sella turcica were found. Pituitary MRI scans showed an empty sella in cases 2 and 3. Like other dysmorphic dwarfisms, we were unable to find hormonal deficiencies that could justify the short stature. (Arq Bras Endocrinol Metab 2003;47/1:87-94)

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Myelopathy Due to Diffuse Thickening of the Cervical Dura Mater in Maroteaux-Lamy Syndrome: Report of a Case

Cited by 36 publications

References 0 publications

Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II

Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II

Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação endócrina de três casos

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