Serial imaging of Menkes disease

Ichihashi, Ko; Yano, Sadayuki; Kobayashi, S.; Miyao, Masaru; Yamaguchi, Masayoshi

doi:10.1007/bf00593944

Cited by 26 publications

(6 citation statements)

References 9 publications

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“…[10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] cUS has the advantage that it is readily available on neonatal units when infants are admitted. We have shown in a large cohort of neonates with diagnosed metabolic disorders that cUS detects many abnormalities that support a clinical diagnosis, detects structural abnormalities that lead to further investigations, or depicts ongoing injurious or metabolic processes.…”

Section: Discussionmentioning

confidence: 99%

“…[5][6][7] Metabolic disorders can be difficult to diagnose, and recognition of characteristic neuroimaging features is very helpful in the diagnostic process. 8,9 Structural brain abnormalities and more acute changes detected on cUS scan in metabolic disorders have been described in individual case reports, [10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] but there is no large study systematically reviewing these imaging findings and their accuracy or comparing them with MR imaging. The aim of this study, therefore, was primarily to investigate the role and range of abnormalities seen on cUS examination in a wide range of metabolic disorders that present during the neonatal period; a secondary aim, when possible, was to address the question of whether brain MR imaging is more informative by comparing cUS to MR imaging findings.…”

mentioning

confidence: 99%

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Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

Leijser¹,

Vries²,

Rutherford³

et al. 2007

American Journal of Neuroradiology

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BACKGROUND AND PURPOSE:Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. A secondary aim, when possible, was to address the question of whether brain MR imaging is more informative by comparing cUS to MR imaging findings.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

Leijser¹,

Vries²,

Rutherford³

et al. 2007

American Journal of Neuroradiology

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“…In Menkes disease in man, tortuous cerebral arteries have been observed but no cerebral aneurysms described (Ichihashi et al 1990). However, death occurs in early childhood (3 years of age).…”

Section: Discussionmentioning

confidence: 99%

Experimental cerebral aneurysms in the female heterozygous Blotchy mouse

Coutard

1999

Int J Experimental Path

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The Blotchy mouse is characterized by an X-linked inherited disorder of connective tissue synthesis. The susceptibility to aneurysm formation in the cerebral arteries of the circle of Willis was compared in female heterozygous 'Blotchy' and control mice subjected to unilateral carotid artery ligation either alone or associated with hypertension. Cerebral aneurysms developed only in hypertensive Blotchy mice (6/31 vs. 0/30 in hypertensive controls). Aneurysms of the aorta and its major branches occurred in normotensive mice only in the Blotchy group in which hypertension increased the incidence of mesenteric and coeliac aneurysms. A light microscopic study of interruptions of the internal elastic lamina (IIEL) showed that they developed in arteries of both Blotchy and control mice but to a greater extent in the Blotchy group where hypertension further increased their incidence. The IIEL incidence in the aortic arch varied in parallel to the occurrence of aneurysms in all the different arterial sites. Thus, in an apparently normally viable animal, the presence of a mutated gene which indirectly leads to defective elastin and collagen fibre synthesis, favours the formation of both peripheral and cerebral aneurysms. However, the development of cerebral aneurysms requires the addition of an increase in haemodynamic stress.

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“…6,7 Characteristic neuroimaging features of Menkes disease include abnormal myelination, diffuse atrophy, extra-axial fluid collections, and tortuosity of cerebral blood vessels. [8][9][10] Extensive white matter changes as seen in our patient are likely due to progressive ischemia and demyelination, and should be distinguished from other leukodystrophies such as Leigh syndrome, adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe, Alexander, or Canavan disease. 11,12 Vasculopathy with "corkscrew" appearance of cerebral vessels can be best appreciated with magnetic resonance (MR) angiography.…”

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confidence: 69%

“From Sheep to Babe” - Menkes Disease

Mah

Casey

et al. 2003

Can. j. neurol. sci.

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A four-month-old boy presented with a new onset focal seizure lasting 18 minutes. During the seizure, his head and eyes were deviated to the left, and he assumed a fencing posture to the left with pursing of his lips. He had been unwell for one week, with episodes of poor feeding, during which he would become unresponsive, limp and stare for a few seconds. Developmentally he was delayed. He was not yet rolling, and he had only just begun to lift his head in prone position. He could grasp but was not reaching or bringing his hands together at the midline. He was cooing but not laughing. His past medical history was significant for term delivery with fetal distress and meconium staining. He was flat and blue at birth, with birth weight of 3.5 kg, and Apgar scores of 1 at one minute, 4 at 5 minutes, and 8 at 10 minutes. He required resuscitation with positive pressure ventilation for two minutes, and then had no further postnatal complications. Family history was remarkable for a paternal cousin with cortical malformation, epilepsy, and developmental delay. His mother and maternal grandmother had migraine headaches and fibromyalgia.On examination, his length (66 cm) and head circumference (43 cm) were at the 50th percentile, and his weight (6.6 kg) was at the 75th percentile. He had short bristly pale hair, and a cherubic appearance with full cheeks. His skin was velvety and lax. He was hypotonic with significant head lag and slip-through on vertical suspension. His cranial nerves were intact. He moved all limbs equally well with normal strength. His deep tendon reflexes were 3+ at patellar and brachioradialis, and 2+ elsewhere. Plantar responses were upgoing.Laboratory investigations showed increased lactate (7.7 mmol/L) and alkaline phosphatase (505 U/L), with normal CBC, electrolytes, calcium, magnesium, phosphate, ammonia, and liver enzymes. A brain CT scan demonstrated diffuse atrophy of the cerebral hemispheres, initially attributed to perinatal hypoxic-ischemic insult. Subsequent brain MRI showed atrophy and impaired myelination, with abnormal hypointense T1 signal and hyperintense T2 signal in the white matter of both frontal and temporal lobes. Tortuous blood vessels could also be seen (Figure 1). His EEG was abnormal, with poorly organized

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Serial imaging of Menkes disease

Cited by 26 publications

References 9 publications

Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

Experimental cerebral aneurysms in the female heterozygous Blotchy mouse

“From Sheep to Babe” - Menkes Disease

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