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Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

Razi SM, Gupta AK, Gupta DC, Gutch M, Gupta KK, Usman SI - J Med Case Rep (2016)

Bottom Line: It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition.We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier.The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Garh Raod, Meerut, 250004, Uttar Pradesh, India. syedrazi1983@gmail.com.

ABSTRACT

Background: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.

Case presentation: We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started.

Conclusions: The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

No MeSH data available.


Related in: MedlinePlus

a Bilateral fusiform tendo-Achilles xanthomas: right 10×4.5 cm, left 8×3 cm. b Bilateral infrapatellar tendon xanthomas: right 2×1.5 cm, left 1.5×1.2 cm
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Fig1: a Bilateral fusiform tendo-Achilles xanthomas: right 10×4.5 cm, left 8×3 cm. b Bilateral infrapatellar tendon xanthomas: right 2×1.5 cm, left 1.5×1.2 cm

Mentions: On examination, she had firm, non-tender, fusiform swellings over bilateral tendo-Achilles (right 10×4.5 cm, left 8×3 cm) and bilateral infrapatellar tendons (right 2×1.5 cm, left 1.5×1.2 cm) as shown in Fig. 1a, b. Her general examination was unremarkable except for bilateral pseudophakic eyes. On neurological examination, her higher mental functions were normal. Her pupils were normal sized and normally reactive. Her sensory system was unremarkable. Her muscle bulk, tone, power, coordination, and other motor system functions were normal. All her cranial nerves were normal. Her cardiac, abdominal and respiratory examinations were also unremarkable.Fig. 1


Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

Razi SM, Gupta AK, Gupta DC, Gutch M, Gupta KK, Usman SI - J Med Case Rep (2016)

a Bilateral fusiform tendo-Achilles xanthomas: right 10×4.5 cm, left 8×3 cm. b Bilateral infrapatellar tendon xanthomas: right 2×1.5 cm, left 1.5×1.2 cm
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4837582&req=5

Fig1: a Bilateral fusiform tendo-Achilles xanthomas: right 10×4.5 cm, left 8×3 cm. b Bilateral infrapatellar tendon xanthomas: right 2×1.5 cm, left 1.5×1.2 cm
Mentions: On examination, she had firm, non-tender, fusiform swellings over bilateral tendo-Achilles (right 10×4.5 cm, left 8×3 cm) and bilateral infrapatellar tendons (right 2×1.5 cm, left 1.5×1.2 cm) as shown in Fig. 1a, b. Her general examination was unremarkable except for bilateral pseudophakic eyes. On neurological examination, her higher mental functions were normal. Her pupils were normal sized and normally reactive. Her sensory system was unremarkable. Her muscle bulk, tone, power, coordination, and other motor system functions were normal. All her cranial nerves were normal. Her cardiac, abdominal and respiratory examinations were also unremarkable.Fig. 1

Bottom Line: It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition.We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier.The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Lala Lajpat Rai Memorial Medical College, Garh Raod, Meerut, 250004, Uttar Pradesh, India. syedrazi1983@gmail.com.

ABSTRACT

Background: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.

Case presentation: We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started.

Conclusions: The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

No MeSH data available.


Related in: MedlinePlus