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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients.
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PMID:Craniofacial syndromes and sleep-related breathing disorders. 2645 41

We report the application of a three-dimensional skull model with vascular structures for occipital expansion in a patient who had developed occipital emissary veins. A 15-year-old boy visited a dentist for orthodontic treatment and was diagnosed with midface hypoplasia. He had undergone a ventriculo-peritoneal shunt at the age of 10 months. On visiting our institution, he was diagnosed with exophthalmos, low visual acuity, reversed bite, and developmental retardation. Moreover, he had sleep apnea and was supported with continuous positive airway pressure at night. Computed tomography and magnetic resonance imaging demonstrated brachycephalus, chronic tonsillar herniation, midface hypoplasia, and well-developed occipital emissary veins. We chose occipital expansion for lowering intracranial pressure and created a three-dimensional skull model with vascular structures and shunt tube. On this model, we wrote scalp incision and craniotomy lines avoiding injury to the veins and shunt tube. The operation was completed using this plan. Patients with syndromic craniosynostosis frequently have developed emissary veins and previous shunt operation. The three-dimensional skull model with vascular structures will be expected to reduce the risks of surgery.
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PMID:[Three-Dimensional Skull Model with Vascular Structures for Occipital Expansion in Patients with Developed Occipital Emissary Veins]. 3036 89

Pycnodysostosis (PYCD) is a rare autosomal-recessive skeletal disorder that typically presents with osteosclerosis of the majority of the postcranial skeleton and osteolysis of the calvarium, manifesting as persistent open cranial fontanelles and widely spaced cranial sutures. Craniosynsostosis in PYCD is a somewhat paradoxical feature, and has only been rarely reported. The authors present a unique case of a 6-year-old girl with PYCD, multisuture craniosynostosis involving the coronal and sagittal sutures, severe obstructive sleep apnoea, and raised intracranial pressure presenting as papilledema. She underwent a frontofacial monobloc distraction advancement which successfully corrected her papilledema and obstructive sleep apnoea.Pycnodysostosis is caused by a loss of function mutation in the CTSK gene that codes for the lysosomal cysteine protease, cathepsin K (CTSK). Loss of CTSK impairs the ability of osteoclasts to degrade bone extracellular matrix. Differences in osteoclast phenotype and extracellular matrix composition between membranous and cartilaginous bone may explain the clinical features of PYCD. Animal model studies suggest that craniosynostosis may arise due to variations in patient genetic background.
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PMID:Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox? 3039 69

A 2-year-old female child with craniosynostosis was referred to our unit for definitive management. She presented with a turricephalic head, hypoplastic midface and obstructive sleep apnoea. Routine preoperative workup included radiographs, CT and polysomnography. She was provisionally planned for calvarial remodelling and midface advancement using transfacial pin fixated distractor (TPF). This involves insertion of a K-wire from one zygoma to the other, a few millimetres below the orbits, traversing across maxilla and nasal cavity. The ends of K-wire are then connected to the distractor anchored firmly to the temporal bone. During insertion, the K-wire transected the nasogastric tube. This technical disaster was circumvented by endoscopic-guided disengagement prior to recovery. The purpose of this paper is to discuss the probable causes that lead to such untoward instances and strategies to avoid and manage the same.
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PMID:Unique mishap following transfacial pin fixated midface distraction and successful management using nasal endoscopy. 3187 42


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