Hereditary protein C deficiency in a Saudi neonate with bilateral adrenal gland haemorrhages: a rare case report

This case report describes a full-term 4-day-old Saudi new-born girl diagnosed with hereditary protein C defi-ciency, who presented with bilateral adrenal gland haemorrhages, intracranial haemorrhage and purpura fulminans. She was born to a consanguineous couple after an unremarkable pregnancy involving a primigravida mother. Her parents were asymptomatic for protein C deficiency. During treatment, her adrenal haemorrhage resolved, but she developed hydrocephalus complicated by cerebral palsy that was initially treated with regular fresh frozen plasma [FFP] and later by lowmolecular-weight heparin prophylaxis. Association of protein C deficiency and adrenal haemorrhage in neonates has not been reported previously, and this appears to be the first such case report of its type. Although protein C deficiency may be acquired, the case under consideration proved to be a homozygous hereditary defect. Further genetic studies are required to identify the aetiology of this rare association

Fanconi anemia associated with moyamoya disease in Saudi Arabia

We report a 10-year-old Saudi girl who has Fanconi anemia [FA] and was admitted due to acute hemiplegia, of the right side. She had a previous attack of left side hemiplegia that resolved spontaneously. The brain magnetic resonance angiography showed a cerebrovascular pattern of moyamoya disease. She underwent partially matched related donor stem cell transplantation [SCT], but unfortunately died 3 months later with post SCT complications. The association of moyamoya disease with FA is uncommon, and is rarely reported in the literature. Although this condition may be acquired, it is considered a truly congenital defect in FA, and to identify the etiology of this association furthermore genetic mutation analysis is needed

Ceftriaxone induced acute multi-organ failure syndrome in a Saudi boy with sickle cell disease

Multi-organ failure syndrome [MOFS] is a rare life threatening complication of sickle cell disease. It is precipitated by severe vaso-occlusive episodes. We report a Saudi boy with sickle cell anemia, who developed acute MOFS following anaphylaxis to ceftriaxone administration. He had a dramatic recovery after red blood cell exchange transfusion and peritoneal dialysis

Unusual location of eosinophilic granuloma

Eosinophilic granuloma EG is a well-recognized benign form of Langerhans cell histiocytosis, most commonly involving the skull bones. In this paper, we report an 8-year-old girl with EG of posterior element of vertebra; she had complete resolution with surgical curettage and bone grafting

Unusual location of eosinophilic granuloma

Eosinophilic granuloma EG is a benign self-limiting disease, which belongs to the spectrum of Langerhans' cell histiocytosis LCH. The etiology of LCH remains unknown, although the evidence indicates that it is a clonal proliferative disorder of Langerhans cells, it has also been characterized as reactive disorder, neoplastic process and a berrant immune response. Eosinophilic granuloma is characterized by single or multiple skeletal lesions occurring predominately in children, adolescents and young adults, it accounts for 70% of LCH. It is more common in males, and the common sites are the skull, mandible, ribs, spines and long bones particularly the femur and the humerus. The estimated incidence of EG is 3-4 per million of the population. Vertebral bone involvement is rarely seen and usually affects the vertebral body. We are reporting an unusual case of EG in a female child presented with a solitary lesion at posterior element of lumbar vertebra

Portal vein thrombosis after splenectomy for beta-thalassemia major

Portal vein thrombosis is a recognized complication after splenectomy in beta-thalassemia major due to the chronic hypercoagulable state which has been recognized to exist in childhood thalassemia and contribute to thromboembolic events. We are reporting one patient with beta-thalassemia major developed portal vein thrombosis following splenectomy

Hypoxic ischemic encephalopathy incidence and risk factors in north western Saudi Arabia

To find the incidence, early outcome and the associated risk factors of hypoxic ischemic encephalopathy[HIE] in Madina Al-Munawara, Kingdom of Saudi Arabia [KSA] and compare it with other centers. Also, to find out whether any of these risk factors are preventable. We conducted a case controlled study of HIE in Madina Maternity and Children's Hospital, Madina Al-Munawara, KSA over a one-year-period, from June 1995 to May 1996. All the inborn term babies without major congenital malformations that developed HIE were included in the study. A term baby born next to the index case was taken as a control for each case. Data was collected for possible risk factors. The incidence of risk factors in the 2 groups was analyzed and compared statistically. A total of 70 cases of HIE were recorded in the study period giving an incidence of 5.5 cases per 1000 term births. This incidence is lower compared to many developing countries and comparable to other centers. Among the maternal factors, being a primigravida, with no antenatal care, presence of pregnancy induced hypertension, and complications of pregnancy were significantly higher in the study population. Similarly, the frequency of prolonged 2nd stage of labor, antepartum hemorrhage, delivery by emergency cesarean section [CS] or the use of instruments was significantly higher in the study group. Babies suffering from intrauterine growth retardation and male sex were also at significantly higher risk. The average hospital stay of the cases was 12 days. Twelve cases of severe HIE died before discharge from the hospital giving an overall mortality rate of 17.1%. The incidence of HIE and birth asphyxia reported in different studies varies widely. The incidence in our hospital is much lower than reported in many studies from developing countries. The important associated risk factors includes being a primigravida mother, lack of antenatal care, pregnancy induced hypertension, prolonged 2nd stage of labor, delivery by use of instruments or emergency CS and intrauterine growth retardation. Improvement in antenatal care and intra-partum monitoring can decrease the incidence of HIE. The threshold for intervention in cases with fetal distress needs to be lower

Sickle cell hemoglobin C disease in Saudi Arabia

Sickle cell hemoglobin C [HbSC] is a disease confined to people of West African ancestry and it has not been reported in the Kingdom of Saudi Arabia [KSA]. We are reporting 2 patients with HbSC disease from the western province of KSA [Madinah]; one patient presented with severe form of the disease which include transient hypertension

Acute splenic sequestration crisis in children with sickle cell disease

The aim of this study was to demonstrate the clinical experience with acute splenic sequestration crisis in children with sickle cell disease, followed in Madina Maternity and Children's Hospital, Madina Al-Munawara, Kingdom of Saudi Arabia. A retrospective review of hospital case notes of all children with acute splenic sequestration in sickle cell disease, was carried out in the Pediatric Hematology unit at Madina Maternity and Children's Hospital between 1993 through to 2000. One hundred and twenty children with sickle cell disease were registered and followed in Madina Maternity and Children's Hospital. Out of these, 8 had acute splenic sequestration crisis with a prevalence of 7%. Seven were Saudi and one was non-Saudi [Sudanese], 7 had sickle cell anemia and one had Sickle b-Thalassemia. The female to male ratio was 3:1, 2 patients presented with associated painful crisis. In 50% of the patients, the spleen was not palpable before the attack of acute splenic sequestration crisis. All patients had major splenic sequestration with circulatory collapse, 4 patients [50%] had recurrence and 3 [37.5%] had splenectomy carried out at the age of 2 years. The steady state hematological data did not show any risk factor for acute splenic sequestration crisis and none of our patients died. We conclude that acute splenic sequestration crisis is of relatively high prevalence in the western region of the Kingdom of Saudi Arabia, and is of severe type. Management measures recommended are, prevention of sickle cell disease through health education, reduction of consanguineous marriage, implementation of premarital and neonatal screening programs for hereditrary blood disease, regular follow-up and education of parents to palpate the spleen in an established sickle cell case