Hutchinson-Gilford Progeria Syndrome and Severe Aortic Stenosis: A New Hope for Treatment.

Hutchinson-Gilford progeria syndrome is an autosomal dominant, rare, fatal pediatric segmental premature aging disease. Cardiovascular and cerebrovascular diseases constitute the major cause of morbidity and mortality. Patients with the syndrome and severe aortic valve stenosis have been described in the literature, and for all of them a strategy of conservative management has been followed. We describe the first successful treatment of a 23-year-old Hutchinson-Gilford progeria syndrome patient with severe aortic stenosis who underwent transapical transcatheter aortic valve replacement.

Anesthetic considerations in children with Hutchinson-Gilford progeria syndrome: A narrative review.

BACKGROUND: Hutchinson-Gilford progeria syndrome is a rare disease in childhood that results in premature aging. The presence of multisystem derangements including skin, bone, and joint diseases and possibly a difficult airway makes the anesthetic management challenging. Because of the extremely low prevalence, experience is limited even for experienced pediatric anesthesiologists. OBJECTIVE: To review the available literature on anesthesia for patients with Hutchinson-Gilford progeria syndrome and to give recommendations for establishing the best practice for patients with Hutchinson-Gilford progeria syndrome. DESIGN: A narrative review of the rare existing literature. DATE SOURCES: CENTRAL (Cochrane), EMBASE, Google Scholar, MEDLINE and PubMed. ELIGIBILITY CRITERIA: Articles addressing anesthesia in patients with Hutchinson-Gilford progeria syndrome were included. RESULTS: An overview of the current literature was made on anesthesia care for patients with Hutchinson-Gilford progeria syndrome. After screening the literature, only ten articles were found to be of interest and include some case reports and a correspondence. The focus points on how to perform anesthesia care in patients with Hutchinson-Gilford progeria syndrome and the entire perioperative care are suggested. The available data are limited and results need to be interpreted with caution. CONCLUSION: The patients with Hutchinson-Gilford progeria syndrome are not just "frail" patients. Awareness concerning intubation difficulties is mandatory, and airway strategies must be addressed in advance. Although these patients present with the physiology of an elderly with accompanying comorbidities, emotionally they are only children and should be approached as such.

Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction.

The authors describe a 5-month-old male infant with Wiedemann-Rautenstrauch syndrome, which is an extremely rare condition. He had tarsal kink in upper eyelids in both eyes. The authors treated bilateral tarsal kink with an everting suture via a transconjunctival approach under local anesthesia.

The Hutchinson-Gilford Progeria Syndrome: a case report.

The HGPS (Hutchinson Gilford Progeria Syndrome) is a rare genetic disorder with an incidence of 1 per 8 million live births. Originally described in 1886, less than 100 cases have been reported. The syndrome is characterized by premature aging with changes in many organs. The diagnosis is usually made by age 2, the mean survival age is 13.4 years and the most common cause of death is myocardial infarction. Recent genetic advances have identified the cause as a defect in the LMNA gene of chromosome 1.

Transient monoparesis after blade plate removal in a Hutchinson-Gilford progeria syndrome patient: a case report.

Treatment of patients with Hutchinson-Gilford progeria syndrome (HGPS) is based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case, of Korean ancestry, previously treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation is presented. Complications over the blade plate area required removal of the hardware, after which the patient showed right-sided hypertonicity--determined to be a cerebrovascular accident. Subsequently, the patient returned almost completely to her presurgical neurologic status. Perioperative planning for HGPS patients should include risks that are typically considered in the planning for geriatric patient care.

[Difficult mask ventilation and tracheal intubation in a patient with Hutchinson-Gilford syndrome].

We report a case of difficult ventilation and tracheal intubation in a 18-year-old woman with Hutchinson-Gilford syndrome. She was diagnosed with osteosarcoma in the right tibia and thyroid cancer. She was scheduled for two operations under general anesthesia for the bone tumor and the thyroid. In the operation, we experienced difficult mask ventilation and tracheal intubation because of her small mouth, small mandible and narrow upper airway related to Hutchinson-Gilford syndrome. In the second operation, mask ventilation and tracheal intubation were easily conducted by using Berman pharyngeal airway. Berman airway was useful for airway managemant of Hutchinson-Gilford syndrome.

Lax eyelid syndrome or 'progeria' of eyelid tissues.

PURPOSE: The lax eyelid syndrome was described by Van den Bosch and Lemij as an uncommon disorder seen in non-obese elderly people and characterised by chronic ocular surface irritation symptoms and a "floppy upper eyelid". The authors present some new features of the lax eyelid syndrome. METHODS: The authors report five patients, belonging to a younger age group, who presented with premature laxity of all the eyelid tissues. This caused medial and lateral canthal dystopia and eyelid malposition including ptosis, entropion and ectropion. Initial surgical correction was often followed by recurrence after some time. CONCLUSIONS: The authors highlight the differences between lax eyelid syndrome, cutis laxa, floppy eyelid syndrome and the blepharochalasis syndrome and suggest that lax eyelid syndrome can be thought of as "progeria" or premature ageing of the eyelid tissues to distinguish it clearly from these other conditions.

[Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)]. / Kyphoskoliose beim Wiedemann-Rautenstrauch-Syndrom (neonatales Progerie Syndrom).

AIM: The Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome, WR syndrome) is a rare autosomal recessive disorder including premature aging already at birth. Most of the patients show an aged face, a craniofacial dysmorphism, decreased subcutaneous fat tissue, a significant developmental delay, and have a short life expectation. We present the second patient described in literature reaching an age of 16 years. Furthermore this patient developed a progressive scoliosis during childhood which to our knowledge has not been reported before among individuals affected by Wiedemann-Rautenstrauch syndrome. The pathogenetic features of the spinal deformity are discussed and the operative management is described. METHOD: The patient underwent a three-stage correction of her spinal deformity (anterior thoracic and lumbar release and posterior release, correction of the deformity with instrumentation and fusion) supported by Halo traction and physiotherapy. RESULTS: At the latest follow-up 12 months postoperatively the patient showed a stable correction from 78 degrees to 38 degrees in the frontal plane with physiologic sagittal alignment both clinically and radiologically. CONCLUSION: The scoliosis of our patient with Wiedemann-Rautenstrauch syndrome showed radiologically and clinically the characteristics of a neuromuscular curve. Since the curve showed a significant progression and high rigidity operative correction and fusion was indicated. We recommend a staged operative management to minimize the high risks of the operations and possible complications from cardiological and respiratory dysfunction associated with WR syndrome.

Masseteric silent period and reflex before and after dentomaxillofacial surgery.

The aim of this study was to evaluate massetteric silent period and reflex in patients affected by progenia, before and after maxillofacial surgery, in order to determine their clinical utility. The electrophysiological changes generated by malocclusion secondary to prognatism have been evaluated before and after maxillofacial corrective surgery in 14 patients aged between 18 and 36 years. The masseteric reflex and the silent period (SP) of the masseteric muscles elicited by stimulation of the mental nerve were recorded. A correspondence between the neurophysiological and clinical findings was present in 12 of 14 patients, in particular concerning the latency of SP2. This study demonstrates that the masseteric silent period may be used as a diagnostic and prognostic support, before and after surgery for malocclusion.