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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 Gross – excisional biopsy specimen from right infrapatellar tendon xanthomas measuring 2×2×1 cm with gray, brown, soft tissue. b Microscopic analysis – showing foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts
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Fig5: a Gross – excisional biopsy specimen from right infrapatellar tendon xanthomas measuring 2×2×1 cm with gray, brown, soft tissue. b Microscopic analysis – showing foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts

Mentions: Her hemogram, renal function test, hepatic function test, serum electrolytes, and fasting lipid profile were within the normal limits. Her serum cholestanol level was 4.27 mg/dl (normal value 0.02 to 0.12 mg/dl). Serum and urinary bile alcohol could not be done because of unavailability. Electrocardiography, two-dimensional echocardiography, spirometry, and nerve conduction study were unremarkable. X-rays of both her legs revealed soft tissue thickening in bilateral ankles posteriorly and overlying right tibial tuberosity as shown in Fig. 2. Ultrasonography of bilateral tendo-Achilles revealed anteroposterior thickness of 7.5 mm and loss of normal tendon appearance with multiple hypoechoic foci within the tendon as shown in Fig. 3. Magnetic resonance imaging (MRI) of her brain revealed T2 and fluid-attenuated inversion recovery (FLAIR) hyperintense signals in the region of the dentate nucleus of both her cerebellar hemispheres with high choline and low N-acetylaspartate (NAA)/creatine peaks on magnetic resonance spectroscopy (MRS) as shown in Fig. 4a, b. She underwent excisional biopsy of her right infrapatellar which yielded a gray, brown, soft tissue measuring 2×2×1 cm on gross examination as shown in Fig. 5a. Microscopic examination revealed foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts as shown in Fig. 5b. On the basis of these findings the diagnosis of CTX was made and she was started on replacement with CDCA 250 mg three times a day, ursodeoxycholic acid 300 mg three times a day, and atorvastatin 10 mg at bedtime.Fig. 2


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 Gross – excisional biopsy specimen from right infrapatellar tendon xanthomas measuring 2×2×1 cm with gray, brown, soft tissue. b Microscopic analysis – showing foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig5: a Gross – excisional biopsy specimen from right infrapatellar tendon xanthomas measuring 2×2×1 cm with gray, brown, soft tissue. b Microscopic analysis – showing foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts
Mentions: Her hemogram, renal function test, hepatic function test, serum electrolytes, and fasting lipid profile were within the normal limits. Her serum cholestanol level was 4.27 mg/dl (normal value 0.02 to 0.12 mg/dl). Serum and urinary bile alcohol could not be done because of unavailability. Electrocardiography, two-dimensional echocardiography, spirometry, and nerve conduction study were unremarkable. X-rays of both her legs revealed soft tissue thickening in bilateral ankles posteriorly and overlying right tibial tuberosity as shown in Fig. 2. Ultrasonography of bilateral tendo-Achilles revealed anteroposterior thickness of 7.5 mm and loss of normal tendon appearance with multiple hypoechoic foci within the tendon as shown in Fig. 3. Magnetic resonance imaging (MRI) of her brain revealed T2 and fluid-attenuated inversion recovery (FLAIR) hyperintense signals in the region of the dentate nucleus of both her cerebellar hemispheres with high choline and low N-acetylaspartate (NAA)/creatine peaks on magnetic resonance spectroscopy (MRS) as shown in Fig. 4a, b. She underwent excisional biopsy of her right infrapatellar which yielded a gray, brown, soft tissue measuring 2×2×1 cm on gross examination as shown in Fig. 5a. Microscopic examination revealed foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts as shown in Fig. 5b. On the basis of these findings the diagnosis of CTX was made and she was started on replacement with CDCA 250 mg three times a day, ursodeoxycholic acid 300 mg three times a day, and atorvastatin 10 mg at bedtime.Fig. 2

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