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Abstract. To describe the clinical, radiological and biochemical features of 18 new Saudi Arabian children with the carbonic
anhydrase II deficiency syndrome, who have been in follow up at Al-Rass General Hospital in the period from September 2004
to September 2008. The medical records of these children were reviewed. The diagnosis was based on the...
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... Autosomal recessive type of osteopetrosis is a rare inherited disorder of bone resorption characterized by increased bone density due to the failure of osteoclasts to resorb bone (Sly, Hewett-Emmett, Whyte, Yu, & Tashian, 1983). It is more common in highly consanguinity cultures such as Saudi Arabia (Suliman, Khedr, & Al Ruthae, 2010). The classical features of osteopetrosis, in general, is bone marrow failure, fractures, visual impairment or neurological abnormality (Suliman et al., 2010). ...
... It is more common in highly consanguinity cultures such as Saudi Arabia (Suliman, Khedr, & Al Ruthae, 2010). The classical features of osteopetrosis, in general, is bone marrow failure, fractures, visual impairment or neurological abnormality (Suliman et al., 2010). Because of the infrequency of this type of osteopetrosis, we report a case of a male neonate who presented with recurrent life-threatening episodes of poor feeding and thrombocytopenia at the age of 5 weeks old. ...
Osteopetrosis Type 3 with Renal Tubular Acidosis (OPTB3) is a rare inherited autosomal recessive disorder. It is manifested clinically with osteopetrosis, renal tubular acidosis (RTA), cerebral calcification, and growth retardation. Neonatal onset with life-threatening complications warrants a thorough clinical evaluation with an assessment of specialized tests such as x-ray. Here, we discuss a rare case of carbonic anhydrase II deficiency syndrome, presenting with poor feeding and thrombocytopenia, in which the diagnosis was initially missed in the first hospitalization. Upon second admission, re-exanimation of the CXR was suggestive of marble bone disease. Further tests confirmed OPTB3. Following conservative management and family counseling, the patient was discharged in a good general condition. In conclusion, this highlight the need of early identification of the disease, as early appropriate treatment is necessary to improve the patient outcome and prevent complications.
... Autosomal recessive type of osteopetrosis is a rare inherited disorder of bone resorption characterized by increased bone density due to the failure of osteoclasts to resorb bone (Sly, Hewett-Emmett, Whyte, Yu, & Tashian, 1983). It is more common in highly consanguinity cultures such as Saudi Arabia (Suliman, Khedr, & Al Ruthae, 2010). The classical features of osteopetrosis, in general, is bone marrow failure, fractures, visual impairment or neurological abnormality (Suliman et al., 2010). ...
... It is more common in highly consanguinity cultures such as Saudi Arabia (Suliman, Khedr, & Al Ruthae, 2010). The classical features of osteopetrosis, in general, is bone marrow failure, fractures, visual impairment or neurological abnormality (Suliman et al., 2010). Because of the infrequency of this type of osteopetrosis, we report a case of a male neonate who presented with recurrent life-threatening episodes of poor feeding and thrombocytopenia at the age of 5 weeks old. ...
Osteopetrosis Type 3 with Renal Tubular Acidosis (OPTB3) is a rare inherited autosomal recessive disorder. It is manifested clinically with osteopetrosis, renal tubular acidosis (RTA), cerebral calcification, and growth retardation. Neonatal onset with life-threatening complications warrants a thorough clinical evaluation with an assessment of specialized tests such as x-ray. Here, we discuss a rare case of carbonic anhydrase II deficiency syndrome, presenting with poor feeding and thrombocytopenia, in which the diagnosis was initially missed in the first hospitalization. Upon second admission, re-exanimation of the CXR was suggestive of marble bone disease. Further tests confirmed OPTB3. Following conservative management and family counseling, the patient was discharged in a good general condition. In conclusion, this highlight the need of early identification of the disease, as early appropriate treatment is necessary to improve the patient outcome and prevent complications.
... Nine patients had their initial diagnosis and maintained their metabolic follow-up at a regional hospital. One of these (Patient 12,Table 1) was diagnosed at birth (Suliman et al., 2010). Patients 16 and 19 (Table 1 ), who presented with floppy infant syndrome, were diagnosed at the Security Forces Hospital, Riyadh and followed-up for 14 and 15 years, respectively, by one of the authors (M.A.S.). ...
... Many were recorded to have infantile hypotonia and failure to thrive during infancy (Table 2 ), and when older, generally disproportionate large cranial vault and short stature. None was dysmorphic, although almost all had a broad head with prominent forehead, a long bulbous nose, a relatively thin upper lip and abnormal teeth, as previously described in CADS (Hu et al., 1992; Awad et al., 2002; Suliman et al., 2010) (Fig. 4 ). Motor milestones were delayed, with the typical individual beginning to sit between eight and 12 months and to walk after 2 years of age. ...
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous intron 2 splice site mutation (the 'Arabic mutation'). All patients had osteopetrosis, renal tubular acidosis, developmental delay, short stature and craniofacial disproportion with large cranial vault and broad forehead. Mental retardation was present in approximately two-thirds and varied from mild to severe. General neurological examinations were unremarkable except for one patient with brisk deep tendon reflexes and two with severe mental retardation and spastic quadriparesis. Globes and retinae were normal, but optic nerve involvement was present in 23/46 eyes and was variable in severity, random in occurrence and statistically correlated with degree of optic canal narrowing. Ocular motility was full except for partial ductional limitations in two individuals. Saccadic abnormalities were present in two, while half of these patients had sensory or accommodative strabismus, and seven had congenital nystagmus. These abnormalities were most commonly associated with afferent disturbances, but a minor brainstem component to this disorder remains possible. All internal auditory canals were normal in size, and no patient had clinically significant hearing loss. Neuroimaging was performed in 18 patients and repeated over as long as 10 years. Brain calcification was generally progressive and followed a distinct distribution, involving predominantly basal ganglia and thalami and grey-white matter junction in frontal regions more than posterior regions. At least one child had no brain calcification at age 9 years, indicating that brain calcification may not always be present in carbonic anhydrase type II deficiency syndrome during childhood. Variability of brain calcification, cognitive disturbance and optic nerve involvement may imply additional genetic or epigenetic influences affecting the course of the disease. However, the overall phenotype of the disorder in this group of patients was somewhat less severe than reported previously, raising the possibility that early treatment of systemic acidosis with bicarbonate may be crucial in the outcome of this uncommon autosomal recessive problem.
