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samanthalubey

All articles by samanthalubey

Molybdenum cofactor deficiency

OVERVIEW: What every practitioner needs to know Are you sure your patient has molybdenum cofactor deficiency? What are the typical findings for this disease? Molybdenum cofactor deficiency is a rare autosomal recessive disorder most often presenting with severe neonatal seizures. It should be suspected in any infant with progressive neurologic decline in which asphyxia is…

Glutaric aciduria type I

OVERVIEW: What every practitioner needs to know Are you sure your patient has glutaric aciduria type I? What are the typical findings for this disease? Glutaric aciduria type I (GA-I) should be considered in any patient who has a history of dystonia/dyskinesia with macrocephaly. Prior to these overt chronic neurologic symptoms, there is usually a…

Community-acquired pneumonia

OVERVIEW: What every practitioner needs to know Are you sure your patient has community-acquired pneumonia? What are the typical findings for this disease? The common signs and symptoms associated with pneumonia in children vary by age, responsible pathogen, and severity of the infection. For the majority of children with pneumonia, the triad of fever, cough,…

Intraventricular hemorrhage

OVERVIEW: What every practitioner needs to know Are you sure your patient has an intraventricular hemorrhage? What are the typical findings? The key sign is evidence of blood in the lateral ventricles on cranial ultrasonography done in a preterm infant between 0 and 7 days of age. The clinical presentation depends on the severity of…

Angelman syndrome

OVERVIEW: What every practitioner needs to know What is Angelman syndrome? Angelman syndrome is a neurogenetic disorder characterized by developmental delay leading to intellectual disability, minimal or no speech development, seizures, and a stereotypic ataxic gait that suggests the appearance of a marionette. Children with Angelman syndrome often have spontaneous laughter and appear happy. The…

Chlamydia trachomatis

OVERVIEW: What every practitioner needs to know Are you sure your patient has Chlamydia? What are the typical findings for this disease? Genital infection with Chlamydia trachomatis is the most frequently reported infection in the United States. Prevalence is highest in persons younger than 25 years of age. Some female patients with uncomplicated infection of…

Homocystinuria

OVERVIEW: What every practitioner needs to know Are you sure your patient has homocystinuria? What are the typical findings for this disease? Homocystinuria, due to deficiency of cystathionine beta-synthase (CBS), demonstrates variable manifestations observed in the ophthalmologic, skeletal, cardiovascular, and CNS systems. CBS deficiency causes elevations of methionine, homocysteine, and other metabolites including S-adenosyl homocysteine…

Tyrosinemia

OVERVIEW: What every practitioner needs to know Are you sure your patient has tyrosinemia? What are the typical findings for this disease? Tyrosinemia encompasses several disease conditions that manifest with elevated levels of the amino acid tyrosine in the blood. Tyrosinemia type I (hepatorenal type) usually manifests as a progressive infantile/juvenile hepatic condition with variable…

Phenylketonuria

OVERVIEW: What every practitioner needs to know Are you sure your patient has Phenylketonuria? What are the typical findings for this disease? Phenylketonuria (PKU) is a treatable autosomal recessive condition which, without treatment, causes progressive mental retardation. It is due to the inherited deficiency of the enzyme phenylalanine hydroxylase (PAH). Because dietary restriction of phenylalanine…

Superior Mesenteric Artery Syndrome

OVERVIEW: What every practitioner needs to know Superior mesenteric artery syndrome (SMAS) is an unusual presentation of small bowel obstruction that results from compression of the duodenum between the abdominal aorta, posteriorly, and the superior mesenteric artery, anteriorly. SMAS is more frequently found in females than males, can be found in every age category including…

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