Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns.

Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disorder characterized by premature ageing, severe growth failure, and very early onset atherosclerosis. Psychologically and emotionally child-like, these patients suffer from physiological changes of old age. Early and progressive atherosclerosis of intra-cranial vessels in HGPS patients, along with a thin skin and fragile vessels, make these patients susceptible to intra-cranial hematomas following relatively trivial injuries and to severe intra-cranial disease. Anesthetizing HGPS patients for surgery can be challenging due to the presence of a possible difficult airway, multi-system derangements, and associated skin, bone and joint disease. We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after minor head trauma. Securing his airway during surgery was difficult.

Introduction

Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder pre-dominantly affecting male Caucasians (incidence ~1 in 8 million live births). It is characterized by pre-mature ageing, severe growth failure (average height ~100 cm, average weight ≤12-15 kg), short life span (mean survival age ~13 years) and very early onset atherosclerosis manifesting as cerebrovascular and coronary artery disease.[123] Atherosclerosis of the cerebral vasculature can predispose HGPS patients to intra-cranial hematomas even with seemingly minor trauma.[4] We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after a minor injury; intra-operative tracheal intubation difficulty was encountered in this patient.

Case Report

A 7-year-old male child, known case of HGPS since 1 year of age, developed a right parietal extradural hematoma following a minor fall while playing. He presented with headache and nausea, was conscious but confused, and had no sensory-motor deficit. An emergency craniotomy and hematoma evacuation were planned. Pre-operative evaluation revealed a history of slow growth, progressively appearing features of ageing, normal intellectual development, and recurrent chest infections. The patient had typical manifestations of HGPS-like, a small thin built (height ~95 cm, weight ~11 kg), pinched nose with small nares, depressed nasal bridge, dry stretched-out skin, prominent veins, alopecia, sunken eyes without eyebrows and eyelashes, small pigeon-shaped chest, overall stiff joints, few missing teeth, a 2.5 cm inter-incisor gap, and normal mentation [Figure 1]. The presence of a disproportionately large head, mandibular hypoplasia, micrognathia, and class-3 Mallampati airway score was suggestive of a difficult airway in him. There was no evidence of cardiac, respiratory, or other systemic illness, and all relevant investigations including echocardiography were normal. Before the start of anesthesia, a well-equipped intubation cart and facilities for emergency tracheostomy were readied in anticipation of a difficult tracheal intubation; pediatric fibreoptic bronchoscope was not available to us. Direct laryngoscopy under deep inhalational anesthesia in the spontaneously breathing patient revealed a high, anterior larynx with non-visible glottic opening. After three attempts that utilized various intubation-facilitating maneuvres, it was possible to secure the airway with a small-sized (4.5 mm), uncuffed endotracheal tube with the help of an intubating stylet. The patient's remaining intra-operative course was uneventful; gentle patient positioning and handling during surgery and maintenance of hemodynamic stability were ensured. The child had an unremarkable post-operative period and subsequent hospital stay.

Figure 1

Post-operative photograph of our HGPS patient with some typical clinical features

Discussion

Children with HGPS are normal at birth and characteristic craniofacial, skeletal and skin abnormalities, and systemic diseases start manifesting by 1-2 years of age [Table 1]; these patients are emotionally and psychologically child-like, but have physical attributes and physiological changes similar to the elderly.[123]

Table 1

Clinical features and physiological changes in patients with Hutchinson–Gilford progeria syndrome

Frequent falls and injuries, typical of playful children, are not unexpected in progeria patients too, especially so, as they may also have concomitant skeletal deformities, unstable gait, and vision defects; however, even trivial trauma can result in serious consequences in these patients. Epidural hematomas[4] and traumatic subdural hemorrhage[5] secondary to seemingly minor head trauma have been reported in HGPS patients. Progressive cerebrovascular disease and multiple cerebral infarctions[6] are also known; stroke is a major cause of death in these patients besides myocardial infarction and congestive cardiac failure.[1] The presence of early onset and progressive atherosclerosis of major intra-cranial arteries, increased cerebral blood vessel fragility, and abnormalities of skin and sub-cutaneous tissue are considered to be the main implicating factors for the development of hematomas and severe intra-cranial disease in these patients.[47] Unusual pathological changes in the atherosclerotic arteries like extensive smooth muscle cell depletion and collagen fibrils are stipulated to increase their susceptibility to hemodynamic and ischemic stress.[7]

Difficulty in securing the airway, as faced by us in this patient, is an oft-reported complication in patients with progeria, attributed to the presence of multiple craniofacial abnormalities like, micro-gnathia, mandibular and maxillary hypoplasia, large head, short stiff neck, and poor dentition.[1238910] Anticipation of this problem and adequate intra-operative preparedness is necessary to avoid failed intubation catastrophes. Preservation of spontaneous breathing until control of airway is established and the use of special intubation aids like laryngeal mask airways, fibreoptic bronchoscopes, bougies, etc., and methods like awake intubation, blind intubation, emergency tracheostomy, etc., are some of the recommended management methods.[1238910] Difficult patient-positioning and increased susceptibility to pressure injuries and skin avulsions due to skeletal and skin abnormalities, potential for peri-operative myocardial ischemia or hemodynamic instability due to co-existent cardiac disease, and requirement for modified anesthesia protocols in keeping with the physiological changes and multi-systemic derangements of old age are some of the other perioperative concerns in HGPS patients.[123]

Thus, the need for immediate attention in children with progeria even after relatively trivial trauma cannot be over-emphasized.