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Journal of Neuroradiology
Vol 34, N° 4  - octobre 2007
pp. 281-283
Doi : 10.1016/j.neurad.2007.06.003
Serial MRI in a child with PEHO syndrome
 

G. Sonmez [1], S. Aydinöz [2], H. Mutlu [1], E. Ozturk [1], H. Onur Sildiroglu [1], S. Süleymanoglu [2], A. Tunca Keskin [1]
[1] Department of Radiology, GATA Haydarpasa Teaching Hospital, 81327 Uskudar, Istanbul, Turkey
[2] Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey

Tirés à part : G. Sonmez

Corresponding author.

A 5-year-old girl was admitted to our hospital suffering from seizures and unable to walk. Neurological examination showed hypotonia, reduced spontaneous movements and lack of visual fixation. Her past medical history was also remarkable, as she had not started talking until she was 3 years old. At that age, she had non-febrile seizures and a walking disability. Initial electroencephalography (EEG) and metabolic screening tests were normal at this time. After 1 year, EEG showed bilateral occipital spike waves with abnormal background activity. Hypsarrhythmia developed during the following weeks. Antiepileptic drugs were started. At 4 years of age, bilateral optic-nerve atrophy was seen on eye examination. Serial MRI was carried out in March 2005, April 2006 and March 2007 (Figs. 1–3). Initial MRI showed moderate cerebral and cerebellar atrophy; the second MRI showed marked cerebral and cerebellar atrophy and the final MRI showed major progressive cerebral and cerebellar cortical atrophy.

Progressive encephalopathy with edema, hypsarrhythmia and optic-nerve atrophy (PEHO) syndrome is rare. Clinical features include hypotonia, convulsions with myoclonic jerking, infantile spasms and/or hypsarrhythmia, absence of motor milestones, poor or absent visual fixation, progressive brain atrophy, mental retardation, and edema of the face and limbs [5 et 6]. Additional features include subcutaneous peripheral and facial edema, microcephaly and facial dysmorphism [4].

Our case has the typical features of PEHO syndrome, with progressive cerebral and cerebellar cortical atrophy, convulsions, hypotonia, absent visual fixation and walking disability, but none of the additional features, such as subcutaneous peripheral and facial edema, microcephaly and dysmorphic features described by Riikonen. In PEHO syndrome, levels of insulin-like growth factor 1 were significantly lower, and levels of nitric oxide were markedly elevated, compared with controls [4].

Disease onset is during early infancy and most children appear healthy at birth [2]. The hypsarrhythmic EEG pattern is usually evident by 1 year of age. Vision failure with abnormal eye movements usually develops early in infancy [1]. Our case had hypsarrhythmia and bilateral optical atrophy. Also, the rate of cerebellar atrophy in our case was less prominent than in earlier reported cases [2 et 3]. However, follow-up MR imaging is expected to reveal more cerebellar atrophy.

Our case has the typical features of PEHO syndrome, such as progressive cerebral and cerebellar cortical atrophy, convulsions, hypotonia, absent visual fixation and walking disability, which developed within a 2-year period, and is worthy of attention because of the rarity of the condition in this age group.

References

[1]
Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, et al . PEHO and PEHO-like syndromes: report of five Australian cases. Am J Med Gent A 2003;15:(122)6-12.
[2]
Huisman TAGM, Klein A, Werner B, Straube T, Boltshauser E. Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with Progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) Syndrome. AJNR 2006;27:1555-1558.
[3]
Klein A, Schmitt B, Boltshauser E. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child. Eur J Paediatr Neurol 2004;8:317-321.
[4]
Reikonen R. The PEHO syndrome. Brain Dev 2001;23:765-769.
[5]
Salonen R, Somer M, Haltia M, Lorentz M, Norio R. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Gen 1991;39:287-293.
[6]
Somer M, Salonen O, Pihko H, Norio R. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. Am J Neuroradiol 1993;14:861-867.




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