Collet-Sicard syndrome as a result of unilateral carotid artery dissection.

A 52-year-old man presented with sudden onset symptoms of multiple cranial nerve palsies (IX, X and XII) following a 10-day history of coryzal illness. Follow-up examination established atrophy of the trapezius suggesting additional involvement of the spinal accessory nerve (XI). Further investigation including CT and MRI demonstrated dissection of the internal carotid artery.

Mutations in HPSE2 cause urofacial syndrome.

Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. UFS individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder.

The 3q29 microdeletion syndrome is caused by a recurrent 1.6 Mb deletion of the 3q subtelomeric region. Though sometimes visible on routine microscopy, the deletion is detected more reliably using subtelomeric fluorescence in-situ hybridization (FISH) or molecular karyotyping.

Proteus syndrome: high-resolution CT and CT pulmonary densitovolumetry findings.

Cystic transformation of the lungs in Proteus syndrome is considered an important manifestation of this disease. We describe a case of an 11-year-old girl with a diagnosis of Proteus syndrome with lung involvement. Low-dose multidetector computed tomography (CT) revealed extensive diffuse cystic lung disease with left lung predominance, affecting mostly the lower lung zones.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identified an Xq28 duplication in three families where several male patients had presented with intestinal pseudo-obstruction or bladder distension. The affected boys had similar dysmorphic facial appearances.

Severe feeding difficulties in 3C syndrome.

We describe a further patient with cranio-cerebellar-cardiac or 3C syndrome. She presented with the characteristic features of Dandy-Walker malformation of the brain, congenital cardiac defect, dysmorphic facies and post-natal growth failure. She had gastro-oesophageal reflux and severe feeding difficulties which are still present at the age of four years.