Radiological signs of mucolipidosis II or I-cell disease A study of nine cases

Lemaître, L.; Rémy, Jacques; Farriaux, J. P.; Dhondt, Jean; Walbaum, R

doi:10.1007/bf00975678

Cited by 35 publications

(43 citation statements)

References 10 publications

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“…One might speculate that the involvement of these latter cell types contributed to the local tissue alterations that occurred in and led the epiphyseal stippling at multiple sites. Stippling has been previously noted in ML-II [Lemaitre et al, 1978;Poznanski, 1994;Beck et al, 1995;Taybi and Lachman, 1996]. Perhaps the epiphyseal stippling seen prenatally in the severe cases is also present in the less severe cases but resolves prior to or shortly after birth.…”

Section: Discussionmentioning

confidence: 85%

Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia

Saul

Proud

Taylor

et al. 2005

American J of Med Genetics Pt A

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Pacman dysplasia has been previously reported to be a lethal skeletal dysplasia with epiphyseal stippling and osteoclastic overactivity. We report on a sibling of a fetus previously reported as Pacman dysplasia. This infant has a clinical course consistent with mucolipidosis type II (I‐cell disease) along with confirmatory biochemical, cytologic, and radiographic evidence. This case expands the phenotypic spectrum of mucolipidosis type II. Having redefined the diagnosis in one of the original cases of Pacman dysplasia, we suggest that what is called Pacman dysplasia could very well be Mucolipidosis type II (ML‐II) in other published reports. © 2005 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 85%

Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia

Saul

Proud

Taylor

et al. 2005

American J of Med Genetics Pt A

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“…Along with these findings, stippling calcifications of the calcaneum and sacrococcygeal regions were noted (Panel A). The last findings are characteristic on ML II [1,2]. The hemogram showed vacuole-like inclusions in some peripheral blood lymphocytes of the patients (Panel C).…”

Section: Case Presentationmentioning

confidence: 77%

“…ML II is usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to multiple pathological fractures of osteogenesis imperfecta [1], or rickets because of transient neonatal hyperparathyroidism [2].…”

Section: Introductionmentioning

confidence: 99%

Radiological Diagnosis of a Neonate with Mucolipidosis II (I-Cell Disease)

Niida¹

2015

Clin Med Img Lib

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Panel A: A lower extremities radiograph showing bending femora and tibiae by pathological fractures and remodeling. Bone trabeculae are irregular, primitive and fibrillar with poor differentiation between the cortical and medullary zones. Metaphyses of these bones are frayed and expanded. Stippling calcifications are seen in bilateral tarsal and sacrococcygeal regions (yellow arrow heads). Panel B: A right humerus radiograph showing cloaked appearance (bone within a sleeve of bone).Panel C: Peripheral blood lymphocytes of the patients have vacuole-like inclusions (May-Giemsa staining, original magnification, ×1,000). Panel D:Cytoplasmic inclusions (I-cell phenotype) in cultured skin fibroblasts (Phase-contrast microscopy, original magnification, ×100).

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“…In Hurler's syndrome the radiology becomes char acteristic after several months, whereas in I-cell disease, the abnormalities are first observed in the neonatal period itself. [5] The clinical course is progressive and these children usually die by the age of four. I-cell disease is universally a fatal ge netic disorder.…”

Section: And De Marsmentioning

confidence: 99%

Mucolipidosis II (I-Cell Disease)

Kumar

Scott

Raghupathy

et al. 2006

Atlas of Genetic Diagnosis and Counseling

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two-year-old girl presented with abnormal facies and delayed development since birth. As Health, Christian Medical A she hailed from an orphanage, historical details regarding her birth and family were not College, Vellore, India known. She had failure to thrive, with her weight being static for the preceding one year. Her developmental milestones had been grossly delayed. She had had two episodes of lower respiratory Correspondence: tract infection and one episode of diarrhoea requiring hospitalisation and administration of intraRaghupathy P.venous antibiotics.

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Radiological signs of mucolipidosis II or I-cell disease A study of nine cases

Abstract: Nine cases of mucolipidosis II are presented with illustrations and a discussion of specific radiologic features: these distinguish Mucolipidosis II from other storage diseases.

Cited by 35 publications

References 10 publications

Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia

Prenatal mucolipidosis type II (I‐cell disease) can present as Pacman dysplasia

Radiological Diagnosis of a Neonate with Mucolipidosis II (I-Cell Disease)

Mucolipidosis II (I-Cell Disease)

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