Congenital skull fracture as a presentation of Menkes disease

Ubhi, Tim; Reece, Ashley; Craig, Adam

doi:10.1111/j.1469-8749.2000.tb00103.x

Cited by 4 publications

(3 citation statements)

References 8 publications

(2 reference statements)

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“…Although simple newborn skull fracture in association with Menkes disease has been reported,1 2 this is the first case described of complex growing fracture.…”

mentioning

confidence: 77%

Growing skull fracture at birth: a rare presentation of Menkes disease

et al. 2018

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“…Although simple newborn skull fracture in association with Menkes disease has been reported,1 2 this is the first case described of complex growing fracture.…”

mentioning

confidence: 77%

Growing skull fracture at birth: a rare presentation of Menkes disease

et al. 2018

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“…The most striking feature however is the abnormal depigmented and lustreless hair that feels like steel wool and shows a twisted hair shaft in microscopy (pili torti) [5,8]. Spontaneous fractures often occur due to osteoporosis, but to date there is only one published report of a congenital skull fracture in Menkes disease [9]. The diagnosis of classical Menkes disease is based on the clinical features and the low serum levels of copper and caeruloplasmin [5].…”

Section: Intrapartum Acquired Skull Fracture As First Sign Of Menkes mentioning

confidence: 99%

Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease

Freidl¹,

Rauter

Moser

et al. 2014

Klin Padiatr

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The patient is a white, male firstborn of a 29-yearold woman. He was born in the 39 th week of gestation (38 + 4) after an unremarkable pregnancy, birth weight was 2 790 g. Due to prolonged labour and the presence of meconium-stained amniotic fluid, Caesarean section was performed. The operative delivery proved to be difficult because the child's head was already deep down in the birth canal. The first examination of the newborn showed hypotonia and compromised spontaneous breathing. The Apgar score was 6, 9 and 9 after 1, 5 and 10 min, respectively. Immediately after birth crepitation of the cranium was noticed in the right occipital region. On palpation a contour disruption in this area accompanied by hematoma was noticed, pointing towards skull fracture. Internal and neurological status were both normal inconspicuous. The patient was admitted to the neonatal intensive care unit (NICU). Computed tomography as well as ultrasound imaging of the skull and brain showed an open skull fracture in the right parietooccipital region with intracerebral bleeding of 15 mm in its maximum diameter ( • ▶ Fig. 1). Following neurosurgical consultation it was decided to refrain from surgical treatment, and antibiotic as well as analgesic therapy were administered. During next days, the patient developed jaundice with bilirubin values up to 19.7 mg/dl, requiring intermittent phototherapy. The patient recovered from his injury quickly, and by the end of the third postnatal week could be discharged with normal internal and neurological status. Also EEG was normal at this time. During next weeks, several developmental assessments were performed. The patient showed a development delay, reduced head control and general muscular hypotonia especially of the trunk. As a consequence, physiotherapy was initiated. At the age of 5 months, the patient developed seizures and was again admitted to the hospital. Now EEG investigation revealed a hypsarrhythmia-like pattern, most pronounced over the right parietooccipital region, however also anomalies over the left cerebral side. Magnetic resonance tomography of the head showed loss of parenchyma in the region of the previous skull fracture. In addition, confluent finger-shaped signal alterations were seen in the left white matter, as well as focal alterations of the basal ganglia on both sides. These results were interpreted as posttraumatic lesions. Antiepileptic therapy with levetiracetam and topiramate was established and periodic clinical and EEG controls were carried out, both pointing towards severely compromised neurological sequelae. At the age of 7 months, the patient developed symptoms of an urinary tract infection. Ultrasound imaging of the urinary tract showed a trabecular urinary bladder and multiple diverticula. To protect the infant from further UTIs, antibiotic prophylaxis with cefaclor was initiated. Nevertheless, the patient suffered from recurrent urinary tract infections during next weeks. At the age of 8 months, circumcision was performed and a suprapupic catheter was implan...

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“…Congenital non‐traumatic multiple skull fractures are only rarely described in the literature, they usually occur as a result of a difficult delivery [Garza‐Mercado, 1982]. Different etiologies are osteogenesis imperfecta (OI) and Menkes disease as a result of defects in collagen synthesis [Sayre et al, 1987; Ubhi et al, 2000]. In this report we describe a case of non‐traumatic congenital skull fractures in a patient with Ehlers–Danlos syndrome (EDS) type VIIC (Dermatosparaxis type) [Beighton et al, 1997].…”

Section: Introductionmentioning

confidence: 99%

Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC

Bar‐Yosef

Polak‐Charcon

Hoffman

et al. 2008

American J of Med Genetics Pt A

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We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a "hieroglyphic appearance." The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation Q225X in ADAMTS2 gene, which encodes procollagen I N-terminal proteinase. All these findings confirmed the diagnosis of Ehlers-Danlos syndrome type VIIC (MIM 225410). Family studies suggested a founder effect in Ashkenazi Jews originating from Belarus. Prenatal diagnosis in the subsequent pregnancy reassured the parents that the fetus was an unaffected carrier.

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Congenital skull fracture as a presentation of Menkes disease

Cited by 4 publications

References 8 publications

Growing skull fracture at birth: a rare presentation of Menkes disease

Growing skull fracture at birth: a rare presentation of Menkes disease

Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease

Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC

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