Avascular Necrosis of Bilateral Femoral Heads in a Patient with Fabry's Disease

Francis O'Neill; John Rice

doi:10.5301/hip.2012.9102

Avascular Necrosis of Bilateral Femoral Heads in a Patient with Fabry's Disease

Hip International ◽

10.5301/hip.2012.9102 ◽

2012 ◽

Vol 22 (1) ◽

pp. 119-121 ◽

Cited By ~ 1

Author(s):

Francis O'Neill ◽

John Rice

Keyword(s):

Avascular Necrosis ◽

Fabry’S Disease ◽

Fabry's Disease ◽

Femoral Heads

ASSOCIATION OF FABRY'S DISEASE WITH FEMORAL HEAD AVASCULAR NECROSIS

Orthopedics ◽

10.3928/0147-7447-19930401-12 ◽

1993 ◽

Vol 16 (4) ◽

pp. 471-473

Author(s):

Glen Ross ◽

Frank Kuwamura ◽

Antoni Goral

Keyword(s):

Femoral Head ◽

Avascular Necrosis ◽

Fabry’S Disease ◽

Fabry's Disease

Fabry's disease

Archives of Dermatology ◽

10.1001/archderm.105.5.774 ◽

1972 ◽

Vol 105 (5) ◽

pp. 774-774

Author(s):

A. Chaitin

Keyword(s):

Fabry’S Disease ◽

Fabry's Disease

A Case of Fabry's Disease Diagnosed in Adult

Nishi Nihon Hifuka ◽

10.2336/nishinihonhifu.74.248 ◽

2012 ◽

Vol 74 (3) ◽

pp. 248-251

Author(s):

Saori TATEMATSU ◽

Shinichi IMAFUKU ◽

Tatsuki MORI ◽

Kotaro ITO ◽

Monji KOGA ◽

...

Keyword(s):

Fabry’S Disease ◽

Fabry's Disease

The renal lesion of angiokeratoma corporis diffusum (fabry's disease): report of three cases including some electron microscopic findings

Pathology ◽

10.3109/00313027009077320 ◽

1970 ◽

Vol 2 (1) ◽

pp. 9-13 ◽

Cited By ~ 5

Author(s):

Campbell Duncan

Keyword(s):

Renal Lesion ◽

Electron Microscopic ◽

Fabry’S Disease ◽

Fabry's Disease ◽

Microscopic Findings

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

Virchows Archiv A Pathological Anatomy and Histopathology ◽

10.1007/bf01606034 ◽

1990 ◽

Vol 417 (5) ◽

pp. 449-455 ◽

Cited By ~ 141

Author(s):

M. Elleder ◽

V. Bradová ◽

F. Smíd ◽

M. BudĚšínský ◽

K. Harzer ◽

...

Keyword(s):

Fabry’S Disease ◽

Fabry's Disease

Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes.

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)43219-5 ◽

1990 ◽

Vol 31 (2) ◽

pp. 335-340

Author(s):

I Hozumi ◽

M Nishizawa ◽

T Ariga ◽

T Miyatake

Keyword(s):

Clinical Analysis ◽

Fabry’S Disease ◽

Fabry's Disease

Electrocardiograms in Fabry's disease

Journal of Electrocardiology ◽

10.1016/s0022-0736(82)80010-1 ◽

1982 ◽

Vol 15 (2) ◽

pp. 153-156 ◽

Cited By ~ 18

Author(s):

Kumudchandra J. Sheth ◽

John P. Thomas

Keyword(s):

Fabry’S Disease ◽

Fabry's Disease

Hair root diagnosis of Fabry's disease

Journal of Inherited Metabolic Disease ◽

10.1007/bf01802051 ◽

1989 ◽

Vol 12 (4) ◽

pp. 491-492

Author(s):

D. Robinson ◽

J. M. Tager

Keyword(s):

Hair Root ◽

Fabry’S Disease ◽

Fabry's Disease

Fabry's Disease with LVOT Obstruction: Diagnosis and Management

Journal of Cardiac Surgery ◽

10.1111/jocs.12209 ◽

2013 ◽

Vol 28 (6) ◽

pp. 695-698 ◽

Cited By ~ 6

Author(s):

Jacob R. Blount ◽

James K. Wu ◽

Matthew W. Martinez

Keyword(s):

Fabry’S Disease ◽

Fabry's Disease ◽

Diagnosis And Management

Otologic Histopathology of Fabry's Disease

Annals of Otology Rhinology & Laryngology ◽

10.1177/000348948909800509 ◽

1989 ◽

Vol 98 (5) ◽

pp. 359-363 ◽

Cited By ~ 43

Author(s):

Patricia A. Schachern ◽

Michael M. Paparella ◽

Donald A. Shea ◽

Tae H. Yoon

Keyword(s):

Temporal Bone ◽

Ganglion Cells ◽

Spiral Ganglion ◽

Cell Loss ◽

The Body ◽

Spiral Ligament ◽

Fabry’S Disease ◽

Fabry's Disease ◽

Temporal Bones ◽

Spiral Ganglia

Fabry's disease is a rare progressive X-linked recessive disorder of glycosphingolipid metabolism. The accumulation of glycosphingolipids occurs in virtually all areas of the body, including the endothelial, perithelial, and smooth-muscle cells of blood vessels, the ganglion cells of the autonomic nervous system, and the glomeruli and tubules of the kidney. Although otologic symptoms have been described in these patients, to our knowledge there have been no temporal bone histopathologic reports. We describe the clinical histories, audiometric results, and temporal bone findings of two patients with this rare disorder. Both patients demonstrated a bilateral sloping sensorineural hearing loss audiometrically. Middle ear findings of seropurulent effusions and hyperplastic mucosa were seen in all four temporal bones. Strial and spiral ligament atrophy in all turns, and hair cell loss mainly in the basal turns, were also common findings. The number of spiral ganglion cells was reduced in all temporal bones; however, evidence of glycosphingolipid accumulation was not observed in the spiral ganglia.