Hijazi and Moosa (1989) described a 6-year old Kuwaiti girl with Rett syndrome. No further details could be obtained.

[Hijazi Z, Moosa A. Rett syndrome in a Kuwaiti girl. Kuwait Med. J. 1989; 23(1): 82-4]

Eeg-Olofsson et al. (1988) investigated two girls affected with Rett Syndrome. Electron microscopy of the muscle biopsies revealed abnormally swollen and dumb-bell shaped mitochondria. Eeg-Olofsson (1998) suggested that the abnormalities in the mitochondria were due to mitochondrial mutations guided by an X-borne gene mutation. For the male zygote, this would result in a failure to implant, or an early embryonal death. Later, Eeg-Olofsson et al. (1990a) investigated the cases of six girls with Rett syndrome (ages between 2 and 9 years). Two girls showed mildly elevated serum lactate levels. EEG showed dysrhythmic patterns during waking, while all but one patient showed bilateral bursts of spike or multispike-and-wave activity. CT revealed mild cortical atrophy in one of the patients. Abnormal mitochondria were visualized upon electron microscopy of muscle biopsy. Based on this, and the clinical manifestations of somatic hypertrophy and low muscle mass in Rett syndrome, Eeg-Olofsson et al. (1990a) hypothesized a mitochondrial dysfunction in the disease. They suggested either a mitochondrial mutation, or an X-borne modulator gene mutation. In the same year, Eeg-Olofsson et al. (1990b) described a Kuwaiti boy who fulfilled all diagnostic criteria for Rett syndrome, including abnormal mitochondria in muscle tissue. They postulated a model of 'metabolic interference' of an X-borne allele, to explain this male variant of the disease.

Koul and Al Gheilani (1997) reported four cases of Rett syndrome seen over a period of four years. All patients showed typical features of the syndrome, presenting from the age of eight months up to 30 months. These features included psychomotor developemental regression after normal development in the first months of life, head growth deceleration, and loss of previously acquired skills. Conducted investigations comprised metabolic workup, chromosomal study, CT brain, and EEG. One child had developed generalized tonic convulsions for which sodium valproate was given. No significant improvement was seen in two patients as they were treated with a dopamine agonist and an oral opiate antagonist over several months. Koul and Al Gheilani (1997) concluded that elaborate investigations were not necessary to confirm the diagnosis, if a female child presented with the classical clinical features.

[Koul R, Al Gheilani A. Rett syndrome: Clinical spectrum and a brief report of four cases. Oman Med J. 1997; 13(4):59-60.]

Al-Jarallah et al. (1996) described five Saudi girls (age 3.5-12 years) with Rett Syndrome. The diagnosis was based on the criteria defined by the Rett Syndrome Diagnostic Criteria Work Group (RSDWGC). None of the girls had a family history of any disease with similar clinical features. However, at least two of the girls had parents who were first cousins. The girls demonstrated gradual deterioration of mental status and loss of acquired speech, infantile autistic behavior, minimal eye contact with surrounding objects, peculiar hand-mouthing, washing and clapping movements, and episodic mouth-breathing with hyperventilation. None had evidence of intra-uterine growth retardation, visceromegaly, retinopathy, microcephaly at birth, or perinatally acquired brain damage. At least two patients showed EEG abnormalities in the form of diffused slowing, as in epilepsy. Another patient had myoclonic epilepsy, and her EEG showed generalized epileptic discharges.

Jan et al. (1999) described a male child with Rett Syndrome. The patient had developed normally till 6-months of age, and then started showing developmental delay. At presentation at 14-months, he had severe receptive and expressive language delay, cognitive delay, gross and fine motor skill delay, and frequent outburst of aggressive behavior. He showed repetitive hand flapping movements and made minimal eye contact. By 3-years of age, he also began to have complex partial seizures that responded well to carbamazepine. Yet, his condition continued to deteriorate and by 12-years of age he developed episodes of hyperventilation. Jan et al. (1999) noted that he met the seven of the nine diagnostic criteria for Rett Syndrome as defined by the RS Diagnostic Criteria Work Group. Exclusions were his head circumference remaining at the 50th centile for his age throughout and his loss of hand use being gradual. Jan et al. (1999) compared this with nine other reported cases of Rett Syndrome in males and concluded that male patients tended to appear with a heterogeneous phenotype that may not meet with all of the necessary diagnostic criteria of the classic syndrome.

Al-Jarallah et al. (1996) examined a Sudanese girl with Rett Syndrome. The diagnosis was based on the criteria defined by the Rett Syndrome Diagnostic Criteria Work Group (RSDWGC). The patient did not have a family history of any disease with similar clinical features. The girl demonstrated gradual deterioration of mental status and loss of acquired speech, infantile autistic behavior, minimal eye contact with surrounding objects, peculiar hand-mouthing, washing and clapping movements, and episodic mouth-breathing with hyperventilation. There was no evidence of intra-uterine growth, visceromegaly, retinopathy, microcephaly at birth, or perinatally acquired brain damage.