Childs Nerv Syst (2003) 19:63–65 DOI 10.1007/s00381-002-0679-8 Marek Mandera Dawid Larysz Jacek Pajak Andrzej Klimczak Received: 25 August 2002 Published online: 19 November 2002 © Springer-Verlag 2002 Presented at the XVIII Congress of the European Society for Pediatric Neurosurgery, 14–18 June 2002, Kiruna, Sweden M. Mandera (✉) · D. Larysz · J. Pajak A. Klimczak Division of Pediatric Neurosurgery, Department of Pediatric Surgery, Silesian University School of Medicine, ul. Medyków 16, 40–752 Katowice, Poland e-mail: marekman@mp.pl Tel.: +48-32-2071826 Fax: +48-32-2071802 C A S E R E P O RT Epidural hematomas in a child with Hutchinson-Gilford progeria syndrome Abstract Introduction: HutchinsonGilford progeria syndrome (HGPS) is a rare genetic disorder. It is characterized by severe growth failure, premature aging, and very early atherosclerosis with coronary artery disease and cerebrovascular disease. Case report: A 10-year-old boy with HGPS was admitted to our department because of progressive deterioration after a mild head injury. The CT scans revealed epidural hematoma in posterior fossa and another one in the temporal region on the left side. On admission the child was given an estimated score of 10 on the GCS. Neurological examination revealed right hemiparesis. The boy was operated on, and both hemato- Introduction Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder, with an estimated incidence of 1 per 250,000 births. Although it was first described in the 1880s, so far only approximately 100 cases of progeria have been reported in the literature. The pathogenesis of the disease is unknown. The patients usually appear normal at birth. It is characterized by severe growth failure, premature aging, and very early atherosclerosis with coronary artery and cerebrovascular disease. Patients with HGPS progressively develop failure to thrive, alopecia, loss of subcutaneous fat, scleroderma, and stiffening of various joints. The median lifespan is 13 years, and death is most frequently caused by cardiovascular complications [1, 3, 5]. Typical manifestations develop gradually and are evident by the 1st or 2nd year of life. Those affected are remarkably similar in physical appearance, mas were evacuated. In a few days the neurological symptoms disappeared, and he was discharged from the hospital with only residual, minimal right hemiparesis. Conclusion: Intracranial pathology was certainly caused by the head trauma, but was more severe than would have been expected had the trauma been the sole cause. We suggest that progressive atherosclerosis of intracranial vessels was responsible for formation of the hematomas. Keywords Hutchinson-Gilford progeria syndrome · Head injury · Epidural hematoma · Atherosclerosis being characterized by short stature, alopecia, craniofacial disproportion, micrognathia, hypoplastic mandible, and beak-like nose. Decreased subcutaneous fat, atrophic skin, sclerodermoid lesions, mottling hyperpigmentation, prominent scalp veins, prominent eyes, protruding ears with no earlobes, faint midfacial cyanosis, delayed closure of fontanels and sutures, delayed dentition, horseriding stance, thin limbs with prominent stiff joints, coxa valga, skeletal hypoplasia and dysplasia, dystrophic nails, and high-pitched voice are the other characteristic features [1, 5, 8]. Case report A 10-year-old boy in whom HGPS had been diagnosed earlier was admitted to our department because he had symptoms of intracranial hypertension after a head injury. The boy had fallen down in his home and suffered the trauma without loss of consciousness. 64 Fig. 3 Unenhanced axial CT scan showing epidural hematoma in the left temporal region Fig. 1 Characteristic appearance of a child with HutchinsonGilford progeria syndrome the temporal bone. The skin on the head was also very thin and was parchment like. After surgery he was kept in the ICU for 2 days, after which he came back to the neurosurgical department. The neurological symptoms disappeared within a few days, and the boy was discharged from hospital with residual, minimal right hemiparesis only. Discussion Fig. 2 Unenhanced axial CT scan showing epidural hematoma in the left posterior fossa region The boy presented typical symptoms of HGPS, such as: craniofacial disproportion, hypoplastic mandible, beak-like nose, decreased subcutaneous fat, atrophic skin, prominent scalp veins, prominent eyes, horse-riding stance, thin limbs with prominent stiff joints, dystrophic nails, and high-pitched voice (Fig. 1). The patient came to the emergency ward on foot with his mother, but his clinical condition continually and quickly deteriorated. On admission the child was given an estimated score of 10 on the GCS. He answered the questions only with incomprehensible words. Neurological examination revealed divergent positioning of the optic bulbs and right pyramidal hemiparesis. The CT exposed an epidural hematoma in the posterior fossa region (2.5 cm thick) on the left side and a further epidural hematoma (8×2.5 cm) in the temporal region on the left side, both of which were exerting significant mass effect. Fracture of the left occipital bone was also found (Figs. 2, 3). The boy was treated surgically with paramedial suboccipital craniectomy and temporal craniotomy. Both hematomas were evacuated. We found the bones of the skull very thin, especially Rosman et al. probably presented the first case report giving a detailed description of progressive cerebrovascular changes in progeria. They reported that the child’s neurological symptoms were almost certainly caused by cerebral infarctions resulting from progressive atherosclerosis of major intracranial vessels. They found multiple cerebral infarctions of different ages, some of which were asymptomatic, including some that were ipsilateral to the neurological findings. No therapy was able to halt progression of the child’s cerebrovascular disease [5]. Stehbens et al., following their histological and ultrastructural study of a limited amount of vascular tissue obtained from the body of a progeric woman aged 20 years who had died of traumatic subdural hemorrhage, supported the belief that the vascular changes were atherosclerotic. The unusual features observed were collagen fibrils with a relatively small diameter in the atherosclerotic intima and media and extensive loss of mural smooth muscle cells. Smooth muscle cells appeared to be unusually susceptible to hemodynamic and ischemic stress [6]. Stehbens et al. conducted two autopsies of progeria cases and found severe smooth muscle cell depletion in the media of atherosclerotic arteries. Moreover, they found the presence of collagen types III, IV, V, VI, and I in the aorta and renal vessels, which is consistent with atherosclerotic disease [2, 7]. O’Brien et al. investigated specific nucleotide sequences and production of allelic transcripts from the 65 locus GGTB2 encoding beta (1–4) galactosyltransferase, the enzyme present in fibroblasts, in HGPS tissues. They used quantitative Northern blots of mRNA, and their investigations indicated mature beta (1–4) galactosyltransferase transcripts that were identical in size and amount in HGPS and control fibroblasts, regardless of their altered glycosylation status [4]. On the other hand, Yan et al. showed that the basal profile of primary antioxidant enzymes that scavenge reactive oxygen species in human skin fibroblasts obtained from a patient with HGPS was decreased and there was blunted induction in response to chronic stress [9]. All these findings may explain the very early atherosclerosis of cerebral arteries and cerebrovascular disease in progeric children, which could predispose to intracranial hematoma formation even after such a mild head injury. In our case, intracranial pathology was certainly caused by the head injury, but its severity was greater than would have been expected following such a mild trauma. It seems to be very important to bear in mind that intracerebral pathology in progeric children is caused not only by direct consequences of head trauma but also by the consequences of atherosclerotic changes in arteries and malformations in subcutaneous and skin tissue. Conclusions We suggest that progressive atherosclerosis of the intracranial vessels was responsible for formation of the hematomas in this case. Further studies are necessary to explain the exact pathogenesis of HGPS and allow the establishment of precise procedures of management and therapy for progeric children who have suffered head trauma. References 1. Abdenur JE, Brown WT, Friedman S, Smith M, Lifshitz F (1997) Response to nutritional and growth hormone treatment in progeria. Metabolism 46:851–856 2. 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