Hypomelanosis of Ito - case report

Almeida, Adriana Silveira de; Cechin, Wania Eloisa Ebert; Ferraz, Jussara; Rodriguez, Rubens; Moro, Anita; Jorge, Rudah; Rosa, Leila C. da

doi:10.2223/jped.114

Cited by 6 publications

(6 citation statements)

References 8 publications

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“…1 The patient showed chromosome mosaicism at 46,XY/46XY,del(10)(q.22.2-24.2), and this locus indicated inclusion of the PTEN (10q23.31) as well as pigmentary genes such as those associated with HPS1 (10q24.2). Immunohistochemical analysis revealed that the tumor cells were PTEN negative.…”

Section: Discussionmentioning

confidence: 98%

Choroid plexus papilloma in a girl with hypomelanosis of Ito

Morigaki

Pooh²,

Shouno³

et al. 2012

PED

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The authors report a case of choroid plexus papilloma in a girl with hypomelanosis of Ito, and they review the literature in brief. Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by cutaneous hypopigmented whorls, streaks, and patches along lines of Blaschko. Most patients exhibit CNS manifestations, including psychomotor retardation, seizures, hypotonia, and ataxia. A 6-year-old girl with hypomelanosis of Ito was referred to the authors' hospital with bilateral tumors in the lateral ventricles. The right lateral ventricle tumor was surgically removed. Immunohistochemical investigations revealed the tumor to be a choroid plexus papilloma (WHO Grade I). A chromosomal investigation revealed that the tumor tissue demonstrated a large loss of heterozygosity at chromosome 10. The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism.

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Section: Discussionmentioning

confidence: 98%

Choroid plexus papilloma in a girl with hypomelanosis of Ito

Morigaki

Pooh²,

Shouno³

et al. 2012

PED

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“…Such enlargement of the PVS can also be seen in Lowe syndrome [5] and hypomelanosis of Ito. [6] Lacunar infarcts, cystic periventricular leukomalacia, multiple sclerosis, cryptococcosis and neuro-epithelial cysts may also mimic enlarged PVS. [7] Communicating hydrocephalus occurs along with the enlargement of extra-axial subarachnoid spaces.…”

Section: Discussionmentioning

confidence: 99%

Cribriform pattern in brain MRI: A diagnostic clue for mucopolysaccharidoses

Biswas

Chakraborty

2013

S Afr J Rad

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A 2-year-old boy presented with macrocephaly, initially suspected to be due to hydrocephalus. There were no focal neurological deficits. A 3T MRI of the brain, however, revealed macrocephaly, thickened diploeic spaces (most prominent in the occipital region) and the presence of a J-shaped sella (Fig. 1). A cribriform pattern (otherwise known as 'honeycombing' or 'sieve-like' appearance) (Figs 2 and 3) was present, caused by dilated perivascular spaces, diffusely involving the bilateral subcortical white matter (WM), centrum semiovale, periventricular deep white matter and corpus callosum. Other findings included supratentorial ventriculomegaly, diffuse cerebral cortical atrophy with prominent cortical sulci and extra-axial CSF (cerebrospinal fluid) spaces (Figs 4 and 5). A hypoplastic odontoid process and thickened ligaments posterior to the odontoid, causing craniovertebral (CV) junction stenosis, were also observed (Fig. 1). Skeletal survey of the child revealed features suggestive of mucopolysaccharidosis 1H (Hurler syndrome), which was further confirmed by quantitative and qualitative urinary glycosoaminoglycan (GAG) analysis [1] revealing elevated levels of dermatan and heparan sulphate. DiscussionThe earliest and most common abnormality found in patients with MPS is cystic lesions that correspond to enlargement of the Virchow-Robin perivascular spaces (PVS), which are pia-lined spaces that accompany penetrating arteries and arterioles into the brain parenchyma.[2] The PVS dilatation reflects impairment of CSF re-absorption owing to accumulation of GAGs in the vacuolated gargoyle cells [3] of the leptomeninges. With disease progression, the lesions become widespread and extensive, reflecting the development of infarcts in demyelination.[4] The PVS are hypo-intense on T1-weighted images, iso-intense to CSF on T2-weighted images, are suppressed completely on FLAIR images, and do not show any diffusion restriction or contrast enhancement. In MPS, these diffusely enlarged PVS affect the periventricular WM, corpus callosum, basal ganglia, subcortical WM, centrum semiovale, thalami and brain stem, resulting in the cribriform or spindle-like pattern. Such enlargement of the PVS can also be seen in Lowe syndrome [5] and hypomelanosis of Ito.[6] Lacunar infarcts, cystic periventricular leukomalacia, multiple sclerosis, cryptococcosis and neuro-epithelial cysts may also mimic enlarged PVS. [7] Communicating hydrocephalus occurs along with the enlargement of extra-axial subarachnoid spaces. The deposition of GAGs in the meninges impairs the function of arachnoid granulations, leading to abnormal CSF reabsorption. Macrocephaly is a common finding in MPS, often associated with metopic beaking and a scaphocephalic configuration.[2] Diffuse cerebral cortical atrophy may be symmetric or asymmetric, resulting from neuronal death and gliosis, induced by the accumulation of GAGs. Apart from cerebral atrophy, corpus callosum thinning occurs owing to ventricular dilatation and the effect of enlarged PVS within it.The common pos...

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“…A Wood's lamp can aid with detection, especially with Caucasians (the marks are easier to see in dark-skinned people) (1) . In some cases, onset of pigment anomalies is described at birth, but they may not be detected until 2-5 years in other cases (in general they become more visible after exposure to the sun) (1,2,5,13) .…”

Section: Discussionmentioning

confidence: 99%

“…However, there are very few laboratories in Brazil with the infrastructure and technical capacity necessary to conduct this type of analysis. Furthermore, there is a paucity of studies of the subject in our country and those that do exist are basically descriptions of case histories (4)(5)(6) .…”

Section: Introductionmentioning

confidence: 99%

Importância da análise cromossômica dos fibroblastos em casos suspeitos de mosaicismo: experiência de um serviço de Genética Clínica

Paskulin

Lorenzen

Rosa

et al. 2011

Rev. paul. pediatr.

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OBJETIVOS: Verificar características clínicas e achados citogenéticos de pacientes com suspeita de mosaicismo submetidos à avaliação cromossômica por meio do cariótipo por bandas GTG de linfócitos e fibroblastos. MÉTODOS: Realizou-se uma análise retrospectiva dos pacientes avaliados no Serviço de Genética Clínica do Complexo Hospitalar Santa Casa de Porto Alegre da Universidade Federal de Ciências da Saúde de Porto Alegre, entre 1975 e 2009, por meio da coleta de dados clínicos e resultados da avaliação citogenética. RESULTADOS: A amostra foi composta de 15 pacientes, seis (40%) do sexo masculino, e idades variando de dez dias a 14 anos. Na análise cromossômica do sangue, alterações foram observadas em quatro pacientes (26,7%), incluindo-se um caso de translocação balanceada [t(2;9)pat] e três de mosaicismo [um caso, respectivamente, de mos 45,X/46,X,+mar; mos 46,XY,r(12)/45,XY,-12/47,XY,r(12),+r(12) e mos 46,XY/47,XY,+9]. Com o objetivo de confirmar ou mesmo identificar um mosaicismo cromossômico, os pacientes foram submetidos posteriormente ao cariótipo de pele. Os principais motivos pelos quais os pacientes com cariótipo do sangue sem mosaicismo apresentaram tal suspeita foram a presença de hemi-hipertrofia (n=5) e de manchas hipocrômicas seguindo as linhas de Blaschko (n=4). Mosaicismo foi confirmado em dois casos e identificado em outros dois (dois casos de mos 46,XX/47,XX,+22). O mos 46,XY/47,XY,+9 não foi verificado no estudo dos fibroblastos. CONCLUSÕES: Os resultados ilustram a variabilidade tecidual característica dos casos de mosaicismo cromossômico, bem como confirmam a importância da avaliação de um segundo tecido para a determinação diagnóstica. Achados clínicos, como assimetria de membros e anomalias pigmentares seguindo as linhas de Blaschko, são fortemente indicativos da presença de mosaicismo.

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Hypomelanosis of Ito - case report

Cited by 6 publications

References 8 publications

Choroid plexus papilloma in a girl with hypomelanosis of Ito

Choroid plexus papilloma in a girl with hypomelanosis of Ito

Cribriform pattern in brain MRI: A diagnostic clue for mucopolysaccharidoses

Importância da análise cromossômica dos fibroblastos em casos suspeitos de mosaicismo: experiência de um serviço de Genética Clínica

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