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.

Left cervical aortic arch associated with pseudocoarctation and aortic and mitral regurgitation: one-stage surgical repair.

Cervical aortic arch is rare with a prevalence of less than 1/10000 live births (Pediatr Cardiol 10 (1989) 205); but may occur with other cardiovascular congenital abnormalities. We report pseudocoarctation of a left-sided cervical aortic arch with an aberrant right subclavian artery and aortic and mitral regurgitation, corrected by an anterior mediastinal shunt from ascending to descending aorta and aortic and mitral valve replacements, as a one-stage procedure.

Mohawk English in the medical interview.

Mohawk English uses metalinguistic cues that reflect Iroquoian grammatical and sociolinguistic patterning. Although phrases like "It seems to me" are common in many varieties of English, Mohawk English speakers use these words and phrases in subtly different ways from other speakers of English. These differences could lead to misinterpretation by health care providers.