MPS VII - Extending the classical phenotype.

Mucopolysaccharidosis VII (or Sly syndrome) is an autosomal recessive disorder characterised by a deficiency in the enzyme Beta-glucuronidase (GUSB). Partial degradation of glycosaminoglycans (GAGs); chondroitin sulfate (CS), dermatan sulfate (DS) and heparan sulfate (HS) results in the accumulation of these fragments in the lysosomes of many tissues, eventually leading to multisystem damage. In some cases, early diagnosis on clinical grounds alone can be difficult due to the extreme variability of the clinical presentation and disease progression. We present a case report of a 31-year-old male patient diagnosed with MPS VII at the age of 28, who multiple specialists saw without suspecting the diagnosis due to the unusual presentation. The patient presented with a history of developmental delay, scoliosis, kyphosis, corneal clouding, abnormal gait, short stature, hearing impairment, slightly coarse facial features and progressive deterioration of fine motor skills since childhood. The patient had inguinal hernia repair at around 12 months, bilateral hearing impairment with a left bone-anchored hearing aid, and spinal surgery. During spinal surveillance MPS VII was suspected by a spinal surgeon with interest in MPS, and the diagnosis confirmed with a deficiency in beta-glucuronidase in leucocytes and marginally elevated urinary GAGs. Next-generation sequencing identified two mutations in the GUSB gene (OMIM 611499), c.526C > T p.(Leu176Phe) and c.1820G > C p.(Gly607Ala). Although the patient exhibited features of the severe form of non-classical manifestations, his metabolic condition has remained reasonably stable, surviving into adulthood with only symptomatic treatment. We present the ever-expanding phenotypic spectrum of this ultra-rare disease.

Functional results of pharyngo-laryngectomy and total laryngectomy: a comparison.

OBJECTIVE: To compare the key functional results (regarding swallowing and voice rehabilitation) in patients treated by pharyngo-laryngectomy with flap reconstruction, versus standard, wide-field, total laryngectomy. METHOD: We studied 97 patients who had undergone total laryngectomy and pharyngo-laryngectomy with flap reconstruction. The main outcome measures were swallowing (i.e. solid food, soft diet, fluid or enteral feeding) and fluent voice development. RESULTS: There were 79 men and 18 women, with follow up of one to 19 years. Voice (p = 0.037) and swallowing (p = 0.041) results were significantly worse after circumferential pharyngo-laryngectomy than after non-circumferential pharyngo-laryngectomy. There was no significant difference in voice (p = 0.23) or swallowing (p = 0.655) results, comparing total laryngectomy and non-circumferential pharyngo-laryngectomy. The presence of a post-operative fistula significantly influenced voice (p = 0.001) and swallowing (p = 0.009) outcomes. CONCLUSION: The additional measures involved in pharyngo-laryngectomy do not confer any functional disadvantage, compared with total laryngectomy, but only if the procedure is non-circumferential. Functional results of circumferential pharyngo-laryngectomy are worse than those of both non-circumferential pharyngo-laryngectomy and total laryngectomy. If oncologically possible and safe, it is better to keep a pharyngo-laryngectomy non-circumferential.

Dacryolith in an unusual case of epiphora: open or endoscopic approach?

INTRODUCTION: Dacryoliths are concretions formed in the lacrimal sac from cellular debris and proteins, which may calcify and cause further obstruction of the nasolacrimal pathway. Dacryoliths are often underlying contributors in cases of intermittent or chronic dacryocystitis (i.e. nasolacrimal sac inflammation, characterised by epiphora, pain, erythema, sac dilation and lacrimal punctum swelling). OBJECTIVE: We report an unusual case of dacryolith resulting in obstructive epiphora, managed via an endonasal endoscopic approach. METHOD: Case report and literature review pertaining to dacryolith. RESULTS: A 54-year-old man attended the multidisciplinary nasolacrimal clinic due to recurrent epiphora. Obstructive epiphora secondary to chronic dacryocystitis was diagnosed. He underwent endonasal endoscopic dacryocystorhinostomy. Intra-operatively, a large dacryolith was found to be the cause of epiphora. CONCLUSION: Dacryolith is an unusual cause of nasolacrimal duct obstruction. This case highlights this unusual cause, and the relevant diagnostic investigations. This case also illustrates successful endonasal endoscopic management, rather than an external, open approach.

Anterior spinal artery syndrome: a rare complication of head and neck surgery.

OBJECTIVE: We report a case of anterior spinal artery syndrome, an extremely rare complication, following head and neck surgery. METHOD: A case report and literature review concerning anterior spinal artery syndrome is presented. RESULTS: A 64-year-old man developed an anterior spinal artery infarction following total laryngectomy and bilateral neck dissections for post-radiotherapy glottic carcinoma. Anterior spinal artery infarction is a rare syndrome. It typically presents with weakness, loss of pain and temperature sensation below the level of the injury, with relative sparing of position and vibratory sensation. Recovery is variable. CONCLUSION: To the best of our knowledge, this is the first case report in the English language literature of anterior spinal artery syndrome following a head and neck procedure. This case report highlights a rare complication, and also the susceptibility of head and neck surgery patients to different complications. In head and neck cancer patients suffering anterior spinal artery syndrome following primary surgical treatment, we recommend that the management of this complication should be as aggressive as that of the primary cancer.

Securing a nasopharyngeal airway.

OBJECTIVE: The nasopharyngeal airway is a simple airway adjunct used by various healthcare professionals. It is the least invasive method of safely managing upper airway obstruction. The objective of this report was to describe a rapid and very simple method of securing a nasopharyngeal airway in an agitated patient. METHOD: We describe a simple method of securing a nasopharyngeal airway, using safety pins and tapes. RESULT: This technique has been used by the authors in several emergency situations and has been found to be quick and effective. CONCLUSION: The nasopharyngeal airway is a simple piece of equipment that is cheap and easy to use. The technique described in this article is a simple, practical and effective method of securing a nasopharyngeal airway in an emergency situation.