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Carbonic Anhydrase II Deficiency in a Saudi Woman.

Alhuzaim ON, Almohareb OM, Sherbeeni SM - Clin Med Insights Case Rep (2015)

Bottom Line: She was started on potassium chloride and sodium bicarbonate.Her DNA analysis came to show a sequence variant c.232+1G>A, which was detected in both of the CA II genes (homozygous).Early recognition of the disease is a key, as an early appropriate treatment institution is essential in order to prevent further complications.

View Article: PubMed Central - PubMed

Affiliation: Obesity, Endocrine and Metabolism Center, King Fahad Medical City, Riyadh, Saudi Arabia.

ABSTRACT

Objective: Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome.

Methods: We describe the clinical and radiological findings of a Saudi woman patient with CA II deficiency syndrome.

Results: A Saudi woman in her 20s presented to our hospital for evaluation of increased bone density. She was known to have delayed developmental milestone with growth retardation and poor scholastic performance. She had multiple fragile fractures started at the age of 15 involving the lower extremities. A physical examination revealed dysmorphic features and intellectual disability with intelligence quotient (IQ) of 36. The initial blood workup showed a picture of distal RTA with hypokalemia, and the radiological imaging confirmed the presence of osteopetrosis and multiple kidney stones. The combination of osteopetrosis with RTA raised the possibility of CA II deficiency. Therefore, computed tomography (CT) of the brain was done and showed intracranial calcification involving the basal ganglia. She was started on potassium chloride and sodium bicarbonate. In addition, she underwent right-sided percutaneous nephrolithotripsy. Her DNA analysis came to show a sequence variant c.232+1G>A, which was detected in both of the CA II genes (homozygous).

Conclusion: Early recognition of the disease is a key, as an early appropriate treatment institution is essential in order to prevent further complications.

No MeSH data available.


Related in: MedlinePlus

Skeletal survey showing generalized increased bone density.
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Related In: Results  -  Collection


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f1-ccrep-8-2015-007: Skeletal survey showing generalized increased bone density.

Mentions: Skeletal survey showed increased bone density (Fig. 1). Bone mineral density showed lumbar spine T-score of +5.4 with a Z-score of +6.1 and total hip of right femur T-score of +2.7 with a Z-score of +3.3. Kidney and urinary bladder X-rays, and renal ultrasound revealed right hydronephrosis with multiple bilateral renal calculi with the largest one measuring 1.6 cm in the upper pole of the right kidney (Fig. 2). The combination of osteopetrosis with RTA raised the possibility of carbonic anhydrase (CA) II deficiency. Therefore, computerized tomography of the brain was done and showed extensive symmetric intracranial calcification involving the subcortical fibers, basal ganglia, both thalamic and subthalamic nuclei, and both cerebellar hemispheres (Fig. 3).


Carbonic Anhydrase II Deficiency in a Saudi Woman.

Alhuzaim ON, Almohareb OM, Sherbeeni SM - Clin Med Insights Case Rep (2015)

Skeletal survey showing generalized increased bone density.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4317082&req=5

f1-ccrep-8-2015-007: Skeletal survey showing generalized increased bone density.
Mentions: Skeletal survey showed increased bone density (Fig. 1). Bone mineral density showed lumbar spine T-score of +5.4 with a Z-score of +6.1 and total hip of right femur T-score of +2.7 with a Z-score of +3.3. Kidney and urinary bladder X-rays, and renal ultrasound revealed right hydronephrosis with multiple bilateral renal calculi with the largest one measuring 1.6 cm in the upper pole of the right kidney (Fig. 2). The combination of osteopetrosis with RTA raised the possibility of carbonic anhydrase (CA) II deficiency. Therefore, computerized tomography of the brain was done and showed extensive symmetric intracranial calcification involving the subcortical fibers, basal ganglia, both thalamic and subthalamic nuclei, and both cerebellar hemispheres (Fig. 3).

Bottom Line: She was started on potassium chloride and sodium bicarbonate.Her DNA analysis came to show a sequence variant c.232+1G>A, which was detected in both of the CA II genes (homozygous).Early recognition of the disease is a key, as an early appropriate treatment institution is essential in order to prevent further complications.

View Article: PubMed Central - PubMed

Affiliation: Obesity, Endocrine and Metabolism Center, King Fahad Medical City, Riyadh, Saudi Arabia.

ABSTRACT

Objective: Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome.

Methods: We describe the clinical and radiological findings of a Saudi woman patient with CA II deficiency syndrome.

Results: A Saudi woman in her 20s presented to our hospital for evaluation of increased bone density. She was known to have delayed developmental milestone with growth retardation and poor scholastic performance. She had multiple fragile fractures started at the age of 15 involving the lower extremities. A physical examination revealed dysmorphic features and intellectual disability with intelligence quotient (IQ) of 36. The initial blood workup showed a picture of distal RTA with hypokalemia, and the radiological imaging confirmed the presence of osteopetrosis and multiple kidney stones. The combination of osteopetrosis with RTA raised the possibility of CA II deficiency. Therefore, computed tomography (CT) of the brain was done and showed intracranial calcification involving the basal ganglia. She was started on potassium chloride and sodium bicarbonate. In addition, she underwent right-sided percutaneous nephrolithotripsy. Her DNA analysis came to show a sequence variant c.232+1G>A, which was detected in both of the CA II genes (homozygous).

Conclusion: Early recognition of the disease is a key, as an early appropriate treatment institution is essential in order to prevent further complications.

No MeSH data available.


Related in: MedlinePlus