RESUMO
BACKGROUND AND OBJECTIVES: Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years. METHODS: The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders. RESULTS: During the study period, 165,530 Saudi Arabian infants were born at Saudi Aramco and 248 were diagnosed with an IEM, corresponding to a cumulative incidence of 150 cases per 100,000 live births. Small-molecule disorders were diagnosed in 134/248 patients (54%). OA were the most common (48/248 patients; 19%), and methylmalonic aciduria was the most frequently observed OA (13/48 patients; 27%). LSDs were diagnosed in 74/248 patients (30%), and mucopolysaccharidosis was the most frequently observed LSD (28/74; 38%). CONCLUSION: We believe that our data underestimate the true incidence of IEM in the region. Regional and national newborn screening programs will provide a better estimation of the incidence of IEM. We recommend a centralized newborn screening program that employs tandem mass spectrometry.
Assuntos
Erros Inatos do Metabolismo/epidemiologia , Triagem Neonatal/métodos , Espectrometria de Massas em Tandem/métodos , Humanos , Incidência , Recém-Nascido , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/fisiopatologia , Estudos Retrospectivos , Arábia Saudita/epidemiologiaRESUMO
Sanjad-Sakati syndrome is a rare autosomal recessive disorder mainly occurring in the Arab Peninsula. This condition is associated with metabolic and septic complications starting in the neonatal period. Chronic intestinal pseudoobstruction owing to visceral myopathy is a rare disabling condition. We report a rare concurrence of Sanjad-Sakati syndrome and chronic intestinal pseudoobstruction in a Saudi child complicated by intestinal failure, sepsis, and early mortality.
Assuntos
Anormalidades Múltiplas/epidemiologia , Pseudo-Obstrução Intestinal/epidemiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/mortalidade , Criança , Cromossomos Humanos Par 1/genética , Doença Crônica , Comorbidade , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/genética , Evolução Fatal , Motilidade Gastrointestinal/genética , Motilidade Gastrointestinal/fisiologia , Deleção de Genes , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/genética , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Pseudo-Obstrução Intestinal/complicações , Pseudo-Obstrução Intestinal/etiologia , Pseudo-Obstrução Intestinal/genética , Masculino , Arábia Saudita/epidemiologia , SíndromeRESUMO
The diagnosis of unsuspected foreign body ingestion is a common problem in children. We describe a toddler who presented with persistent vomiting and dehydration. A plain radiograph of the abdomen did not reveal a foreign body. However, abdominal ultrasonography promptly identified a funnel-shaped foreign body obstructing the gastric outlet. This was extracted by upper endoscopy. A recent review of the literature shows increasing evidence that abdominal ultrasonography is an equally complementary diagnostic modality for ingested foreign bodies in children.
