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Oculo-auriculo-vertebral spectrum disorder is a complex and heterogeneous inborn condition affecting primarily aural, oral, and manibular development with an estimated incidence of between 1/3500 and 1/26 000 births. It is thought to be connected to the development of the first and second branchial arch. It may additionally affect the skeletal system, kidneys, heart, gastrointestinal tract, and eye. Familial occurrence has been reported, but most cases seem to be sporadic.1 Structural CNS and neurological abnormalities occur often, but with great variability.2 Mental retardation seems to be a common feature,1 but other relevant psychiatric disorders have not been reported.
We present what seems to be the first published case of a patient with an organic schizophreniform disorder and oculo-auriculo-vertebral spectrum disorder.
A 27 year old man was referred for psychiatric treatment by his general practitioner. The patient reported intermittent speech problems since the age of 9 which, he was unshakably convinced, were the effect of “electrosmog”. He would often smell strange and sickening odours originating in his mother’s kitchen that nobody else would notice and were causing his problems. Officially he was studying business administration, but had not passed any of the necessary exams in the past 3 years. Mentally he thought he was absolutely sane.
From birth he showed facial asymmetry, right thumb dysplasia, and dysplasia of the right auricle. Neither the patient nor his mother knew of a relevant family history of psychiatric disorders or dysplasias of any kind. There were no further psychiatric treatments except for one short admission for somatisation disorder 2 years previously. No prenatal or perinatal abnormalities were known. The patient’s school performance had been average to good. He had first successfully trained and worked as a chemical laboratory assistant, but he had discontinued a subsequent polytechnic engineering course for no obvious reason.
On psychiatric examination the patient was suspicious and reserved. Thought contents were restricted to his complaints; formal thought showed a loosening of associations and often tended to be illogical. Attention, comprehension, and concentration were mildly impaired. There were olfactory hallucinations (kitchen smells), but no other sensory impairments. Delusional ideas—but no autochthonous delusions—were present (control by electrosmog), they were not systematised and had a low affective impact. There were no delusions of reference. Mood was blunt and flat. There were no psychomotor abnormalities, but marked apathy was noted. Neuropsychological testing showed normal intelligence, normal visual memory, reduced speed of visual processing, and, despite the discrete attention deficit, normal accuracy, concentration, and speed. Physical examination confirmed dysplasias of the right auricle and the right thumb as well as scoliosis of the cervical and thoracic spine. Cranial nerves were unaffected, but right sided conductive hearing loss (audiometrically confirmed) and marked facial asymmetry with a hypoplastic right half were prominent. Ear, nose, and throat examination showed submucous cleft palate, malocclusion and hypoplasia of the maxilla, mandibular asymmetry, and cluttering with mild stuttering.
Routine blood and urine tests were normal. Electrocardiography, echocardiography, and chest radiography showed no cardiac or pulmonary abnormalities. Radiography showed right sided rib deformation, aplasia of the left 12th rib, a hypoplastic atlas, a plump odontoid process, basilar impression, complete (C5/7) and incomplete (C2/3) fusion of vertebrae, rotational scoliosis, and segmental synostoses of the cervical and thoracic spine. Asymmetry of the mandible and hypoplasia of the maxilla was cephalometrically confirmed on skull radiography. Cranial MRI showed a hypoplastic vermis cerebelli inferior but no other abnormalities. An EEG showed no ictal activity. Cortical magnetic stimulation was normal, whereas the blink reflex showed markedly lowered responses on the right side (trigeminal nerve; R1) and the masseter reflex produced no right sided electrophysiological response, but normal responses on the left. Acoustic evoked potentials showed a peripheral conductive delay on the right side. The karyotype was 46, XY. Fluorescence in situ hybridisation techniques showed no microdeletions on chromosomes 22q13.3 or 10p13/14.
We treated the patient with the atypical neuroleptic drug olanzapine (15 mg/day) and supportive psychotherapy. This resulted in a mild but significant amelioration of the disturbances of thought, concentration, attention, and comprehension, the rather low intensity olfactory hallucinations and delusional ideas diminished markedly.
This patient with normal intelligence exhibited multiple abnormalities: oral (submucous cleft palate, malocclusion), phoniatric (cluttering with stuttering), auricular (right sided conductive hearing loss and dysplasia of the auricle), facial (asymmetry), skeletal (right sided aplasia of the 12th rib, fused cervical vertebrae, and other dysplasias of the cervical and thoracic spine, abnormalities of the cranial base, right thumb dysplasia). Oculo-auriculo-vertebral spectrum disorder lacks clear minimal diagnostic criteria, but according to Gorlinet al 1 our patient would qualify for this diagnosis.
There is no final answer to the question whether this schizophreniform disorder is idiopathic or symptomatic, as an unequivocal distinction between idiopathic and symptomatic schizophrenia cannot be made by phenomenology.3 But despite the age of the patient, there are arguments for a symptomatic aetiology: The lack of autochthonous (or primary) delusions, of delusions of reference, and of Schneiderian first rank symptoms, the exclusively olfactory hallucinations, the absence of a positive family history of psychiatric disorders, the neither schizoid nor schizotypal premorbid personality, and the deficient pattern of thought disorders and cognitive abilities and at the same time the organic abnormalities affecting other systems of the head (speech, cleft palate, cranial base, hearing loss, facial asymmetry, cerebellar structures) support the idea of an organic background to the disorder.3 We think that inborn syndromes of the head and neck—particularly oculo-auriculo-vertebral spectrum disorder—have received too little attention from neuropsychiatrists. Given their embryological position, these conditions might help develop some hypotheses about the aetiology of psychiatric disorders.
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