Ethan, a 12-year-old boy, presents to the clinic with progressive muscle weakness, clumsiness, and difficulty walking. His parents report frequent falls and poor coordination, along with complaints of tingling sensations in his hands and feet. He also has fatty, foul-smelling stools, poor growth, and struggles with night vision. A peripheral blood smear reveals thorny red blood cells. Laboratory tests show vitamin E deficiency, extremely low serum cholesterol and triglyceride levels. Which of the following is considered a hallmark feature of this disease?
Sophia, a 10-year-old girl, is brought to the clinic by her parents due to poor growth, frequent falls, and tingling sensations in her hands and feet. Her parents report that she has difficulty seeing in low light and often bumps into objects. Her stools are pale, foul-smelling, and greasy. On examination, Sophia appears thin and has a clumsy, unsteady gait. Her vision is diminished, with evidence of retinitis pigmentosa, and she has reduced tendon reflexes and loss of vibratory sensation in her lower limbs. Laboratory findings reveal: Extremely low cholesterol and triglyceride levels. Acanthocytosis (thorny red blood cells) on peripheral smear. You suspect abetalipoproteinemia, a rare autosomal-recessive disorder caused by defective chylomicron and VLDL assembly due to MTTP gene mutation. Which of the following vitamins is characteristically deficient in patients with abetalipoproteinemia?
A 5-year-old male presents with a history of failure to thrive, chronic diarrhea, and easy bruising. Despite adequate caloric intake, he has experienced poor weight gain since infancy. He also has chronic, greasy stools and a history of easy bruising. His mother reports that he has delayed motor development. Physical examination reveals an underweight child with delayed motor milestones and mild ataxia. Laboratory investigations demonstrate markedly low levels of cholesterol and triglycerides. The diagnosis of abetalipoproteinemia is suspected. The pathogenesis of abetalipoproteinemia involves the critical role of which of the following proteins?
A mother brings her son to your office for evaluation of delayed growth, diarrhea, and pale, foul-smelling stools. The child has speech difficulties, recurrent infections requiring antibiotics, and vision problems, including difficulty seeing at night and bumping into objects. His movements are clumsy, resembling those of a “drunken man,” and he complains of tingling and burning pain in his hands and legs. The mother notes that some relatives have similar symptoms. On physical examination: Thin, ill-built individual with tremors in both hands. Gait: Irregular, clumsy, and jerky. Vision: 20/40 in both eyes, nystagmus, and dry skin. Neurological findings: Diminished tendon reflexes, loss of vibratory and position sense in the legs, loss of pain and temperature sensation, and muscle weakness. Other findings: Kyphoscoliosis, hepatomegaly, and acanthocytosis of red blood cells. Laboratory results reveal: Very low serum cholesterol, low triglycerides, and low-density lipoproteins. Elevated liver enzymes, anemia, and thorny-looking red blood cells. Of the following, what is the most likely diagnosis in this boy?
A 10-month-old male is brought to the emergency department with a 12-hour history of severe, intermittent crying episodes. The infant pulls his legs to his chest during the episodes and appears lethargic between them. His mother reports one episode of vomiting, initially non-bilious but now greenish, and a single stool containing blood and mucus. On physical examination, his abdomen is mildly distended, and a sausage-shaped mass is palpated in the right upper quadrant. What is the most likely diagnosis?
What is the primary treatment approach for intussusception in children without signs of peritonitis or shock?
Ella, a 9-month-old female, is brought to the emergency room by her parents due to episodes of crying and pulling her legs up to her chest that have been occurring every 15–20 minutes over the past day. During these episodes, Ella appears pale and irritable. The parents report that she has had non-bilious vomiting initially, but it became green and bilious as the day progressed. They also noticed a red, mucus-filled stool described as “currant jelly.” On examination, Ella appears lethargic between crying episodes, her abdomen is distended, and a palpable “sausage-shaped mass” is noted in the right upper quadrant. You suspect intussusception in this infant. What is the first-line diagnostic imaging modality for intussusception in children?
