β mannosidose: une nouvelle observation

Gourrier, E; Thomas, Melanie; Münnich, Arnold; Poënaru, Livia; Asensi, D; Jan, D; Leraillez, J

doi:10.1016/s0929-693x(97)86159-3

Cited by 17 publications

(3 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most, however, eventually displayed mental retardation, neuropathy, and hearing loss. Respiratory infection was reported in some cases as a fatal complication (6, 8). Only a few cases developed skin lesions as complications.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

β‐Mannosidosis with Angiokeratoma Corporis Diffusum

Suzuki

Konohana

Fukushige

et al. 2004

The Journal of Dermatology

View full text Add to dashboard Cite

Beta-mannosidosis is a lysosomal disorder which is caused by a deficiency of beta-mannosidase. This disorder was first described in goats. Twelve human cases have already been reported. We present the first case in Japan in whom the diagnosis was reached from angiokeratoma corporis diffusum. Futhermore, mental retardation, hearing loss, and renal failure were also detected. Pseudoxanthoma elasticum was also present, but whether it is a complication of beta-mannosidosis or not remains unknown. The activity level of beta-mannosidase in the patient's plasma was only 2% of the normal range, while that in the patient's mother was 40%. We suggest that beta-mannosidosis should be one of the differential diagnoses when lysosomal enzyme disorders are suspected in cases of angiokeratoma corporis diffusum.

show abstract

Section: Discussionmentioning

confidence: 99%

“…This is an autosomally recessive disease. To date, 13 human patients and 10 families have been reported (2)(3)(4)(5)(6)(7)(8)(9)(10). Table 2 summarizes the cases of β-mannosidosis reported to date.…”

Section: Discussionmentioning

confidence: 99%

β‐Mannosidosis with Angiokeratoma Corporis Diffusum

Suzuki

Konohana

Fukushige

et al. 2004

The Journal of Dermatology

View full text Add to dashboard Cite

show abstract

“… 7 The most recently reported case was an infant who presented with hypotonia, and abnormalities in esophageal motility and swallowing, resulting in recurrent respiratory infections. 10 …”

mentioning

confidence: 99%