Menkes disease as a differential diagnosis of child abuse

Arita, Juliana Harumi; Faria, Eliete Chiconelli; Peruchi, Mirella Maccarini; Lin, Jaime; Masruha, Marcelo Rodrigues; Vilanova, Luiz Celso Pereira

doi:10.1590/s0004-282x2009000300026

Cited by 12 publications

(10 citation statements)

References 9 publications

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“…Typical MRI findings are progressive degeneration of grey and white matter, followed by neuronal loss, gliosis, demyelination and 'ex vacuo' development of subdural haematomas Arita et al (2009). Basal ganglia lesions indicating energy failure have been described in advanced stages of Menkes disease, but in our case, quite unusually, they presented a prominent early stage feature.…”

Section: Introductionmentioning

confidence: 49%

“…Menkes disease is an X-linked recessive disorder of metal metabolism, due to a defect in intracellularintercompartmental copper transport Bindu et al (2007), Arita et al (2009). Typical MRI findings are progressive degeneration of grey and white matter, followed by neuronal loss, gliosis, demyelination and 'ex vacuo' development of subdural haematomas Arita et al (2009).…”

Section: Introductionmentioning

confidence: 99%

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Basal ganglia lesions in the early stage of Menkes disease

Koprivšek

Lučić

Kozić

et al. 2010

J of Inher Metab Disea

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Section: Introductionmentioning

confidence: 49%

Section: Introductionmentioning

confidence: 99%

Basal ganglia lesions in the early stage of Menkes disease

Koprivšek

Lučić

Kozić

et al. 2010

J of Inher Metab Disea

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“…There can be metaphyseal fractures mimicking the classic metaphyseal lesion from child abuse. This, in combination with subdural hematomas, can lead to confusion with non-accidental trauma [ 86, 87 ].…”

Section: Copper Homeostasismentioning

confidence: 99%

Disorders of metal metabolism

Ferreira

Gahl

2017

Translational Science of Rare Diseases

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Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. The different electron shells of an atom carry different energy levels, with those closest to the nucleus being lowest in energy. The number of electrons in the outermost shell determines the reactivity of such an atom. The electron shells are divided in sub-shells, and in particular the third shell has s, p and d sub-shells. Transition metals are strictly defined as elements whose atom has an incomplete d sub-shell. This incomplete d sub-shell makes them prone to chemical reactions, particularly redox reactions. Transition metals of biologic importance include copper, iron, manganese, cobalt and molybdenum. Zinc is not a transition metal, since it has a complete d sub-shell. Selenium, on the other hand, is strictly speaking a nonmetal, although given its chemical properties between those of metals and nonmetals, it is sometimes considered a metalloid. In this review, we summarize the current knowledge on the inborn errors of metal and metalloid metabolism.

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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%

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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Menkes disease as a differential diagnosis of child abuse

Cited by 12 publications

References 9 publications

Basal ganglia lesions in the early stage of Menkes disease

Basal ganglia lesions in the early stage of Menkes disease

Disorders of metal metabolism

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

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