Neuropediatrics 2017; 48(05): 396-397
DOI: 10.1055/s-0036-1597674
Images in Neuropediatrics
Georg Thieme Verlag KG Stuttgart · New York

Middle Cerebellar Peduncles T2-Hyperintense Signal in Fazio–Londe Syndrome

Igor de Assis Franco
1   Division of Child Neurology, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
,
Marcelo de Melo Aragão
1   Division of Child Neurology, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
,
Andrea Poretti
2   Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Charlotte R. Bloomberg Children's Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
3   Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, United States
,
Mayara C. Vogel da Silva
1   Division of Child Neurology, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
,
Walter J. da Graça Diogo
1   Division of Child Neurology, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
,
Marcelo Rodrigues Masruha
1   Division of Child Neurology, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil
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Weitere Informationen

Publikationsverlauf

22. November 2016

23. November 2016

Publikationsdatum:
26. Dezember 2016 (online)

A 14-month-old girl presented with progressive bilateral ptosis, dysphonia, and dysphagia. At 8 months, she developed generalized weakness requiring mechanical ventilation. A few weeks later, a percutaneous gastrostomy tube was placed due to marked worsening of dysphagia. Extensive laboratory blood and cerebrospinal fluid investigations, fundus examination, hearing test, and muscle biopsy were unrevealing. Brain magnetic resonance imaging (MRI) at 9 months showed bilateral, symmetric T2-hyperintense signal of the middle cerebellar peduncles (MCP; [Fig. 1]). Whole exome sequencing revealed homozygous mutations in SLC52A3, suggesting Fazio–Londe syndrome (FLS).[1] A therapy with high doses of riboflavin was started.

Zoom Image
Fig. 1 A 9-month-old girl with Fazio–Londe syndrome. (A) Axial T2-weighted and (B) fluid attenuation inversion recovery images show bilateral, symmetric hyperintense signal within the middle cerebellar peduncles (arrows).

FLS and Brown–Vialetto–Van Laere syndrome[2] are rare, treatable motor neuron disorder with childhood onset due to riboflavin transporter deficiency.[1] [2] [3] The presence of sensorineural deafness favors the diagnosis of Brown–Vialetto–Van Laere syndrome, although both diseases are most likely allelic conditions that present along a phenotypic spectrum. Brain MRI may show normal findings, T2-hyperintense signal of brainstem nuclei, atrophy of the brainstem and cerebellum, or T2-hyperintense signal abnormalities of the MCP like in our patient. In addition to peroxisomal and mitochondrial disorders and toxic leukoencephalopathies, FLS should be considered in the differential of diseases presenting with bilateral, symmetric T2 hyperintense signal within in the MCP.[4]

 
  • References

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