Lethal Neonatal Carnitine Palmitoyltransferase II Deficiency: An Unusual Presentation of a Rare Disorder
Autor: | Renu Sharma, Savithri Raja, Anthony A. Perszyk, Carmela Monteiro, Donald Marangi |
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Rok vydání: | 2003 |
Předmět: |
Adult
Male medicine.medical_specialty Pediatrics Hyperkalemia Oligohydramnios Diagnosis Differential Electrocardiography Lethargy Fatal Outcome Pregnancy medicine Humans Carnitine palmitoyltransferase II Abnormalities Multiple Renal Insufficiency Ultrasonography Carnitine O-Palmitoyltransferase business.industry Infant Newborn Obstetrics and Gynecology Arrhythmias Cardiac medicine.disease Hypotonia Surgery Respiratory failure Pediatrics Perinatology and Child Health Female Carnitine palmitoyltransferase II deficiency medicine.symptom Deficiency Diseases business Kidney disease |
Zdroj: | American Journal of Perinatology. 20:025-032 |
ISSN: | 0735-1631 |
Popis: | A term male newborn, appropriate for gestational age, developed hypothermia, severe cardiac dysrrhythmia, and nonoliguric hyperkalemia within 24 hours of birth. Despite the prenatal identification of cystic renal dysplasia without oligohydramnios, at birth, a solitary left leg vascular hemangioma and large palpable kidneys were the only anomalies. Gradually hypotonia, lethargy, and poor feeding developed and by 20 hours of age recurrent cardiac dysrrhythmias, myocardial dysfunction, and renal insufficiency with intermittent hyperkalemia were apparent. Episodes of apnea developed on day 7 followed by respiratory failure, recurrent cardiac dysrrhythmias, and death on day 12. Eventually laboratory and autopsy findings confirmed the diagnosis of lethal neonatal carnitine palmitoyltransferase II deficiency. |
Databáze: | OpenAIRE |
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