Imaging features that allow for the recognition of Menkes disease

Rego, José Iram Mendonça do; Rocha, Antônio José da; Segatelli, Vanderley; Oliveira, Ebe Christie de

doi:10.1590/0004-282x20140028

Cited by 3 publications

(2 citation statements)

References 4 publications

(1 reference statement)

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“…In previous case reports, most patients with misdiagnosed Menkes disease suffered from intracranial hemorrhage and seizures, thus mimicking abusive head trauma. 8,9,16 This case demonstrates the importance of remaining open to considering additional explanations for clinical findings, even when a patient presents with common symptoms suggesting a common diagnosis.…”

Section: Previous Authors Have Suggested Includingmentioning

confidence: 89%

“…This leads to secondary sequelae such as tortuous cerebral vasculature and/or pili torti hair. 8,9 The diagnosis is made when there are clinical signs consistent with the disorder and corresponding low serum copper levels. The typical physical manifestations of Menkes disease include the following: coarse/steely hair, skin pallor, neurologic sequella (ie, seizures), tortuous vasculature, developmental delay, wormian bones, pectus excavatum, sacral dimple, bilateral inguinal hernia, blue sclera, hypotonia, failure to thrive, hypothermia, metaphyseal widening, and abnormal pelvic structure.…”

Section: Discussionmentioning

confidence: 99%

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Opening Pandora’s Box: A Chest Radiograph in a 5-Month-Old With Bronchiolitis

Wacks

Schoppel²,

Sell

et al. 2016

Hospital Pediatrics

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A 5-month-old, otherwise healthy, former 35-week male infant, presented to our pediatric emergency department with the chief complaint of cough and "sucking in" at the chest. The patient was in his usual state of health until 1 day prior to presentation when he developed nasal congestion. Before coming into the hospital, the family noted decreased oral intake and only 3 wet diapers in the past 24 hours. No other past medical history was notable except intubation at time of delivery due to respiratory distress requiring surfactant administration. Past surgical history was significant for bilateral inguinal hernia repair and circumcision. He is on no medications currently and immunizations are up to date. He lives at home with his nonsmoking parents.In the emergency department, the patient's vitals were as follows: heart rate, 137; blood pressure, 94/51; temperature, 36.8; respiratory rate, 56; and pulse oximetry, 97% on room air. Physical examination revealed an infant in mild respiratory distress with tachypnea, subcostal retractions, clear nasal discharge, and coarse breath sounds throughout. The patient was treated with nasal suctioning, and the decision was made to send for chest radiograph.

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Section: Previous Authors Have Suggested Includingmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%