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Biomedical subjects

S S Gubbay

Publications and source records attributed to S S Gubbay.

At least 19 recordsLinked to original sources
PubMed1992

Familial cyanotic breath-holding spells.

Breath-holding spells can be a source of considerable parental anxiety and are a frequent cause of referral to paediatric services. This report is of a family of seven siblings all of whom have suffered breath-holding spells, including three who developed breath-holding spells within the neonatal period, with the other four developing them at 3-4 months of age. All of the children have on occasions exhibited convulsive activity at the termination of the episode. All had normal initial electroencephalogram's (EEG) and one had centrotemporal spikes on his EEG when repeated at age 6 years. Anticonvulsant therapy resulted in a reduced frequency of breath-holding spells. The epidemiology, pathophysiology and therapy of breath-holding spells is discussed with reference to this unique family. This report gives further credence to the notion that there often may be a familial predisposition to breath-holding spells.

Cyanosis↗
PubMed1992

Enigmatic trigeminal sensory neuropathy diagnosed by facial skin biopsy.

Facial paraesthesia due to perineural malignant infiltration is a well recognised complication of basal and squamous cell carcinomas of the head and neck. Perineural involvement was originally attributed to involvement of the perineural lymphatics; however subsequent studies have demonstrated conclusively that these lymphatics do not exist and that the invasion occurs along the line of least resistance. Previous studies on perineural spread of carcinomas of the head and neck have emphasised diagnostic biopsy of an involved nerve (e.g. the infraorbital, mental or major branches of the trigeminal nerve), or at times craniectomy with exploration of the gasserian ganglion. We suggest that in many cases the diagnosis can be obtained by biopsy of the anaesthetic skin alone, without recourse to more involved biopsy techniques. The following case report illustrates this point.

Biopsy↗
PubMed1991

Benign vascular sexual headache and exertional headache: interrelationships and long term prognosis.

There is a definite relationship between the vascular type of benign sexual headache and benign exertional headache. Forty five patients with benign vascular sexual headache were reviewed. Twenty seven (60%) experienced benign vascular sexual headache alone and eighteen (40%) had experienced both benign vascular sexual headache and benign exertional headache on at least one occasion. The mean age was 34.3 years with a male:female ratio of 5.4:1. Thirty patients with a history of benign vascular sexual headache were followed for an average of 74 months. A personal history of migraine was found in 47% of cases and a family history of migraine in 30%. Forty one per cent of patients with benign vascular sexual headache alone had recurrences after diagnosis, and stress and fatigue were considered major contributing factors to the initial and recurrent headache. Nine patients had experienced benign vascular sexual headache and benign exertional headache within 72 hours of each other on at least one occasion, often with a residual headache between the two. Four patients experienced their benign vascular sexual headache and benign exertional headache separated by months to years. The prognosis of benign vascular sexual headache and the clinical and possible pathophysiological relationships between benign vascular sexual headache and benign exertional headache are discussed. Knowledge of the interrelationships of these varieties of headache is valuable in the counselling of patients.

Adult↗
PubMed1990

Triphasic waves in accidental hypothermia.

Triphasic waves occur in a variety of metabolic, toxic and diffuse encephalopathies. We describe an elderly patient in whom triphasic waves accompanied moderately severe accidental hypothermia and disappeared on rewarming.

Aged↗
PubMed1989

Mitochondrial encephalomyopathy with corticosteroid dependence.

A 12-year-old boy with corticosteroid-responsive mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is described. His mother proved to have an asymptomatic mitochondrial myopathy on examination of a muscle biopsy specimen. Three weeks after the onset of vomiting, headache, ataxia and visual and speech impairment, he presented with a background of somatic growth retardation, deafness and school failure. Examination revealed disorientation, dysphasia, dyspraxia, optic atrophy, hemianopia, hemiparesis and sensory inattention. A cranial computed tomographic scan disclosed a large, low-density area, which was consistent with infarction, in the left posterior hemisphere and marked calcification of the basal ganglia bilaterally. Within two weeks of the commencement of corticosteroid treatment, the neurological dysfunction resolved. Attempts to decrease the dosage of dexamethasone caused an exacerbation of symptoms repeatedly. Two weeks after ceasing corticosteroid therapy, the patient developed a serious neurological relapse and a new, large, low-density area, which resembled an infarction, in the right posterior hemisphere on a computed tomographic scan. The reintroduction of corticosteroid therapy again resulted in the rapid resolution of all symptoms. It became evident that the patient had an exquisitely sensitive corticosteroid dependency, whereby a reduction in the dexamethasone dosage of even 0.25 mg a day caused confusion, headaches and increasing lactic acidaemia. Although it is difficult to assess the impact of various therapies in MELAS because of the episodic natural course of the disease, this remarkable corticosteroid responsiveness also has been noted in four previously reported patients with MELAS syndrome; therefore, it would seem reasonable to suggest that corticosteroid therapy now should be considered as standard treatment for this condition. However, corticosteroid therapy in other forms of mitochondrial disorders still awaits careful evaluation.

Acidosis, Lactic↗
PubMed1989

Familial periodic ataxia.

A teen-age girl presented with recurrent stereotyped episodes of vertigo and ataxia and manifested constant horizontal gaze-evoked nystagmus. Cranial computed tomographic scans and metabolic biochemical screens gave normal results. The diagnosis of familial periodic ataxia was made from the family history and examination of the family members. Familial periodic ataxia is a rare disorder of cerebellar function which is inherited dominantly and has a benign prognosis. The underlying pathophysiology remains uncertain but a therapeutic response frequently is achieved with acetazolamide.

Acetazolamide↗
PubMed1989

Long term survival with early childhood intracerebral tumours.

Three young adults are described who presented during early childhood with a seizure disorder due to an underlying intracerebral tumour. The tumours were excised incompletely 14-19 years later. The histological findings were those of a temporal lobe benign capillary haemangioblastoma (Case 1), parietal lobe subependymoma (Case 2), and parietal lobe ganglioglioma (Case 3). After a mean period of follow-up of 22 years (range 18-26), only mild residual physical disabilities exist in each patient. These three cases illustrate (1) the need promptly to investigate children who present with focal seizures or whose EEG shows definite focal abnormalities, (2) the relevant investigations should include cranial CT or MRI in such cases and (3) that certain supratentorial tumours have a favourable outcome due to their benign biological behaviour rather than their location.

Adolescent↗
PubMed1987

Asymptomatic cerebellar venous angioma.

In contrast to the scarcity of recorded cases of radiologically studied venous angiomas, venous angiomas are the most common of the four basic types of congenital intracranial vascular malformations encountered incidentally at autopsy. Their clinical significance remains unclear. When symptomatic, they are associated mainly with hemorrhage or mechanical pressure on cranial nerves by anomalously enlarged veins, however, it is, as yet, impossible to predict what course an asymptomatic cerebellar venous angioma will take. The risks of surgery appear to exceed those of the natural history of the disorder. The following two cases of asymptomatic cerebellar venous angioma are recorded because of the rarity of the condition's diagnosis and the possibility of controversy in its conservative management.

Adult↗
PubMed1987

Acquired aphasia of childhood with epilepsy: the Landau-Kleffner syndrome.

The Landau-Kleffner syndrome is an unusual childhood disorder characterised by an acquired aphasia and a paroxysmal electroencephalographic abnormality with spike and spike and wave discharges which are mostly multifocal and unstable in their course of evolution. Two accessory symptoms are frequently observed: psychomotor or behavioural disturbances and epilepsy. Epileptic seizures are most often generalised convulsive or partial motor and invariably disappear before the age of 15 years. A 20 year old woman is described who has been followed since the rarely observed onset of the Landau-Kleffner syndrome at the age of 3 years. At 4 years of age she was totally unable to communicate through speech and her EEG showed almost continuous bitemporal spike and spike and wave discharges. Maximum doses of diazepam, phenytoin, carbamazepine and sulthiame were used without effect. From the age of 14 years her ability to communicate through spoken and written language has improved and her EEG now shows no epileptiform activity.

Adult↗
PubMed1979

Choreiform movements induced by anticholinergic therapy.

A case is reported where long term therapy with anticholinergic drugs caused choreiform movements in a 73-year-old man. After the therapy was ceased the movements disappeared. The elderly are particularly at risk from developing side effects from drug therapy. We believe this to be the first report of chorea produced by long-term therapy with benzhexol.

Aged↗
PubMed1979

Transient ischaemic attacks. A neurological challenge.

The problem of cerebral transient ischaemic attacks (TIA) is probably the greatest clinical challenge in the management of cerebrovascular disease. Decisions in this area are as difficult to make as any within the entire field of clinical neurology. The burden of the clinical management of this condition is heavy because the patients tend to be anxious, the risk of angiographic investigation is significant, and the risks associated with either anticoagulant therapy or arterial surgery are not inconsiderable. Above all, many of the issues are controversial where the 'law of diminishing returns' for increasing effort so very much applies.

Aged↗
PubMed1979

Thoracic outlet syndrome secondary to childhood poliomyelitis.

2 women with acute anterior poliomyelitis affecting the upper limb girdles in early childhood later developed thoracic outlet syndromes, 1 of them bilaterally. It is thought that the poliomyelitis was a contributory factor in each case by allowing undue descent of the shoulder girdles, although cervical ribs were also present in the second case. This association had not been recorded previously. Both patients obtained substantial relief from anterior scalenotomy, indicating that previous involvement of the shoulder girdle by poliomyelitis does not negate the efficacy of this operative procedure.

Acute Disease↗
PubMed1979

Familial trigeminal and glossopharyngeal neuralgia.

A family incorporating 2 interesting variants of trigeminal and glossopharyngeal neuralgia is presented. The familial occurrence of these cranial neuralgias spanning 3 generations is very unusual. In the case of glossopharyngeal neuralgia it has not been documented previously. Furthermore, the coincidence of trigeminal and glossopharyngeal neuralgia in the same person is quite exceptional, despite the anatomical contiguity of the sensory territories of the fifth and ninth cranial nerves. These features suggest firstly that there must be an important constitutional factor in the aetiology of the cranial neuralgia, and secondly that in many cases there is a centronuclear rather than cranial nerve ganglionic pathogenesis of the pain.

Adult↗
PubMed1977

Meningeal cysticercosis diagnosed in Western Australia.

Two cases of the relatively unusual meningeal form of intracranial cysticercosis are described in adult Italian immigrants to Western Australia. Each presented solely with raised intracranial pressure caused by communicating hydrocephalus in association with chronic meningitis, characterized by a very low cerebrospinal fluid glucose level. The diagnosis was confirmed histologically on tissue obtained fortuitously at lumbar puncture. These cases draw attention to the epidemiological implications of cysticercosis in the Australian scene. As well, they demonstrate that repeated cerebrospinal fluid analysis may result in diagnostic confirmation of intracerebral cysticercosis of the racemose type.

Adult↗