Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive. However, in moderate cases, surgery might be indicated including surgeries for ptosis and strabismus. In this article, we report a Saudi patient with CPEO due to compound heterozygous variants in the DNA polymerase gamma (POLG) gene c.2246T>C p.(Phe749Ser) and c.1735C>T p.(Arg579Trp), which are classified as pathogenic. Proper diagnosis with genetic testing confirmation is important to guide the management and counsel the patient about the prognosis and the management options. The patient was successfully managed with bilateral frontalis sling and illustrates the importance of surgical intervention to improve vision and cosmetic appearance in patients with CPEO. We emphasize the importance of multidisciplinary care in the management of cases of mitochondriopathy, especially CPEO.

Benign acute childhood myositis in the eastern region of Kingdom of Saudi Arabia; a 5-year experience

To assess the epidemiological, clinical and laboratory characteristics, and outcomes of BACM in children diagnosed at a teaching hospital in the eastern province of the KSA. A retrospective study of 28 patients admitted to the hospital with the diagnosis of BACM was carried out at King Fahd Hospital of the University, AlKhobar, Kingdom of Saudi Arabia [KSA], from January 2008 to December 2012. Demographics, clinical characteristics, laboratory findings and patients' responses were analyzed. Thirty episodes were reported over 5 years with incidence of 3.17 per 100,000. The male to female ratio was 6:1. The mean age was 6 years. A seasonal peak during the winter months was observed. The major symptoms were fever, inability to walk in all the patients [100%] and symptoms of upper respiratory tract infections found in 70%. Major clinical findings were the normal deep tendon reflex and calf muscle tenderness in 76.6% and 100% respectively. The prominent laboratory findings were the high creatine phosphokinase [CPK] and leukopenia in 100% and 60%, respectively. Our findings showed that the clinical and epidemiological features associated with BACM, in the KSA, have the similar pattern of other studies from different regions in the world. A nationwide survey, however, is necessary to investigate the overall incidence, risk factors and the outcome of BACM in the KSA

Infants of diabetic mothers: 4 years analysis of neonatal care unit in a teaching hospital, Saudi Arabia

Background: Diabetes mellitus [DM] in pregnant ladies has consequences during the perinatal period, affecting the mothers' gestation and their mode of delivery. The infants of diabetic mothers [IDM] are also prone to spectrum of morbidity. This study aimed to evaluate the outcome of diabetic mothers, of both types; pregestational and gestational, and to determine the spectrum of morbidity pattern among their infants

Materials and Methods: This study is a retrospective analysis of 4 years period May 2008 to April 2012 at King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia. All the diabetic pregnant mothers admitted to the hospital and their babies within that period were included into the study

Results: The diabetic mothers constitute 2.9% of all the pregnant ladies. Multiparity was found in the majority of our diabetic mothers regardless of their type of diabetes. Around 70% of the IDM were born to mothers with gestational diabetes mellitus [GDM], while 26% were born to mothers with type 2 DM, and only 4.5% type 1 DM. Full term babies were 163 [92.0%], preterm were only 14 [8.0%]. The most common IDM morbidities were Hypomagnesaemia, followed by macrosomia, which was found higher in infant of GDM. The least common complications were polycythemia and acute respiratory distress syndrome. A low percentage of asymptomatic hypoglycemia and hypocalcemia were found. There was no mortality among the IDM during the study period

Conclusions: As proven in this study Gestational DM continues as health care problem with risks for both the mothers and their offspring. It is recommended to follow the international guidelines for early detection, proper diagnosis and management of the gestational diabetic mothers to improve the outcome and limit the complications

very rare type of primary hyperparathyroidism with severe hypercalcemia in an infant

Severe neonatal primary hyperparathyroidism is a very rare type of primary hyperparathyroidism in pediatrics that might present during infancy with non-specific symptoms. We report an infant who presented with a very high level of calcium, yet responding to simple medications to draw the attention to pediatricians to this disease as early diagnosis and treatment will ameliorate its devastating outcome

syndrome of septo-optic dysplasia in Saudi children

To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism. All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from October 1999 through to May 2004. The hormonal evaluation included growth hormone, adrenocorticotrophic hormone, thyroid stimulating hormone, gonadotropin and anti diuretic hormone testing, and the neuroradiological assessment included brain magnetic resonance imaging or computed tomogram scanning, or both. The current age of patients ranged from 18- months to 5-years. The mean age of initial presentation for endocrine evaluation was 14-months. Hormonal studies indicated that all children had multiple pituitary hormone deficiencies [2 or more of the pituitary hormones were deficient]. Ten children had growth hormone deficiency, 8 had thyroid stimulating hormone deficiency, 8 had adrenocorticotrophic hormone deficiency, 2 children were suspected to have gonadotropin deficiency and central diabetes insipidus was present in one patient. Pendular nystagmus and impaired vision were common initial signs. All children had bilateral optic nerve hypoplasia. Neuroradiologic findings were variable. Eight children had absent septum pellucidum, 3 had pituitary gland hypoplasia, 2 had pituitary stalk dysplasia [pituitary stalk was either attenuated or not visualized], 2 had absent corpus callosum and one had absent posterior pituitary high intensity signal. All patients were replaced with appropriate hormonal replacement therapy. Two male children had micropenis which responded to testosterone therapy. The syndrome of septo-optic dysplasia is commonly associated with hypothalamic hypopituitarism including anterior and posterior pituitary hormonal deficiencies. Early diagnosis of this syndrome is critical as the hormonal deficiencies can be life threatening