From 1996 to 2002, I was head of a pediatric neurology section and helped develop a fellowship training program in Saudi Arabia. This was a most rewarding learning experience because of an abundance of neurometabolic and neurodegenerative diseases in a population with a high rate of consanguinity. In addition to inborn errors of metabolism, other prevalent disorders included late-infantile neuronal ceroid-lipofuscinosis, hyperekplexia, focal cortical dysplasias, sarcoglycanopathies, familial spastic paraplegia, demyelinating diseases, and dysmorphic syndromes. These patient experiences were a rich source of stimulation for clinical teaching and research. (J Child Neurol 2005;20:226—229).
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References
1.
King Faisal Specialist Hospital and Research Centre: Facts and Figures 2000—2001. Riyadh, 2001.
2.
King Faisal Specialist Hospital and Research Centre: The Research Centre 2000 Annual Report. Riyadh , 2002.
3.
el-Hazmi MA, al-Swailem AR, Warsy AS, et al: Consanguinity among the Saudi Arabian population. J Med Genet1995:32:623—626.
4.
Khlat M.: Endogamy in the Arab World, in Teebi AS, Farag TI (eds): Genetic Disorders Among Arab Populations. Oxford Monographs in Medical Genetics No. 30. New York, Oxford University Press , 1997, 63—80.
5.
King Faisal Specialist Hospital and Research Centre: Outpatient Service: Overall Statistics. Details Related to Patient Visits . January 1, 2000.
6.
Al-Odaib AN, Abu-Amero KK, Ozand PT, Al-Hellani AM: A new era for preventive genetic programs in the Arabian peninsula . Saudi Med J2003;24:1168—1175.
7.
Albar MA: Ethical considerations in the presentation and management of genetic disorders with special emphasis on religious considerations. Saudi Med J2002;23:627—632.
8.
Zhong N., Wisniewski KE, Hartikainen J., et al: Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. Clin Genet1998;54:234—238.
9.
Chaves-Carballo E., Dabbagh O., Essa M., Ozand PT: Neurologic complications of hyperekplexia in infancy, abstract. Ann Neurol1999;46:466.
10.
Hejazi NS, Chaves EC, Boumah C., et al: Linkage of hyperekplexia (HEK) in three Saudi families to chromosome 4q31.3 associated with the glycine receptor beta subunit (GLRβ), abstract . Neurology2001;56(Suppl 3):A132.
11.
Salih MA, Mahdi AH, al-Jarallah AA, et al: Childhood neuromuscular disorders: A decade's experience in Saudi Arabia. Ann Trop Paediatr1996;16:271—280.
12.
Salih Mam: Neuromuscular disorders among Arabs, in Teebi AS, Farag TI (eds): Genetic Disorders Among Arab Populations. Oxford Monographs in Medical Genetics No. 30. New York, Oxford University Press, 1997, 126—157.
13.
Majumdar R. , Al Jumah M, Al Rajeh S, et al: Deletion mutations in the survival motor neuron and neuronal apoptosis inhibitory protein genes in 74 spinal muscular atrophy patients, abstract. Am J Hum Genet2000;67(Suppl 2):401.
14.
Al Jumah M, Majumdar R., Al Rajeh S, et al: PCR-based mutation analysis in patients with spinal muscular atrophy, abstract. J Neurol Sci2001;187(Suppl 1):S355.
15.
Al-Jumah M. , Majumdar R., Al-Rajeh S., et al: Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy. Saudi Med J2002:23:1478—1482.
16.
Al-Jumah M. , Majumdar R., Al-Rajeh S., et al: Molecular analysis of the spinal atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy. Saudi Med J2003;24:1052—1054.
17.
Hodgkinson CA, Bohlega S., Abu-Amero SN, et al: A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology2002;59:1905—1909.
18.
Chaves-Carballo E., Moumen A., Dabbagh O., et al: Favorable outcome of neuromyelitis optica (Devic) in children, abstract. Neurology2002;58(Suppl3):A29.
19.
Jones KLSmith's Recognizable Patterns of Human Malformation, 5th ed. Philadelphia, WB Saunders , 1997.
20.
Chaves-Carballo E., Bosley TM, Patay Z., et al: Juvenile hypophysitis: Non-invasive diagnosis by neuroimaging studies, abstract. Neurology2001;56(Suppl 3):A39.
21.
Chaves-Carballo E., Dabbagh O., Bahabri S.: Pseudotumor cerebri and leukoencephalopathy in childhood lupus. Lupus1999;8:81—84.
22.
Chaves-Carballo E., Montes JA, Nelson BA, et al: Hemorrhagic shock and encephalopathy: Clinical definition of a catastrophic illness in infants. Am J Dis Child1990;144:1079—1082.
23.
Khogali M., Hales Jrs: Heat Stroke and Temperature Regulation. Sydney , Academic Press, 1983.
24.
Bouchama A. , Knochel JP: Medical progress: Heat stroke . N Engl J Med2002;346:1978—1988.
25.
Chaves-Carballo E., Bouchama A.: Fever, heatstroke, and hemorrhagic shock and encephalopathy. J Child Neurol1998 ;13:286—287.
26.
Moloney GE: Local healers of Qasim, in Sebai ZA (ed): Community Health in Saudi Arabia. Jeddah, Tihama Publications, 1984 ,87-98.
