Benign paroxysmal torticollis in infancy.

Benign paroxysmal torticollis is a condition characterized by attacks of head-tilting often accompanied by lateral curvature of the trunc. The first onset of these attacks usually occurs during the first months of life and they recur with a remarkable periodicity for 6--12 months after which time they gradually subside in intensity and frequency. As a rule the attacks have ceased completely before the age of 2 years but in some cases they continue in a modified form as attacks of ataxia. The aetiology is unknown and there is no evidence of bilateral peripheral vestibular disturbances as has been suggested in earlier reports. The ataxia seen in some cases rather suggests a dysfunction of the cerebellum or of the vestibulo-cerebellar connections. Four own patients with this syndrome are presented and discussed.     

Congenital paroxysmal atrial tachycardia.

Ten infants who had paroxysmal atrial tachycardia in utero or at birth are reported. Because of apparent fetal distress, caesarean section was performed in 4 cases and labour was induced in 1. Birthweight was generally large for gestational age. Severe ascites and hydrops at birth were manifestations of cardiac failure. Atrial flutter was recorded in 4 infants and supraventricular tachycardia in 5. The WoLff-Parkinson-White syndrome became evident later in 2. Digoxin was given to all 10 infants, and cardioversion was required and was effective in 4. Known recurrences in childhood have occurred in only 1 patient. Congenital atrial tachyarrhythmias may be commoner than generally believed, and fetal electrocardiography may help to avoid unnecessary termination of pregnancy. Blood sugar determinations are important, since neonatal hypoglycaemia was found. Cardioversion should be performed promptly in severely ill infants or if there is no response to digoxin. Care is required to avoid digoxin toxicity.     

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and accompanying general symptoms which remit spontaneously. The rare association with gain-of-function CACNA1A mutations, similar to hemiplegic migraine, has been reported. We report here two new BPTI patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys. Functional analysis revealed that this mutation induces a loss of channel function due to impaired gating by voltage and much lower current density. Our data suggest that BPTI, a periodic syndrome commonly considered a migraine precursor, constitutes an age-specific manifestation of defective neuronal calcium channel activity.     

Bath-induced paroxysmal disorders in infancy

We reviewed those paroxysmal disorders of infancy and of the newborn in which the normal process of bathing may be an important trigger. We focused on infant bathing in normal temperature water (37 °C, range 36–38 °C) rather than in hot water that is above body temperature. Four principal diagnostic categories emerged: bathing epilepsy, alternating hemiplegia of childhood, hyperekplexia and paroxysmal extreme pain disorder. Bathing or water immersion epilepsy was the best studied and is arguably distinct from hot water epilepsy. The paroxysmal episodes previously attributed to aquagenic urticaria may have been examples of bathing epilepsy with a genetic component. Despite suggestions in the literature to the contrary, no convincing reports of bath-induced infantile syncope have been found. The underlying mechanisms of bath-induced paroxysmal disorders in infancy remain poorly understood, but all have autonomic manifestations and some if not all may be channelopathies.     

Benign paroxysmal torticollis in infancy

Of 5 infants with benign paroxysmal torticollis, 3 had symptoms of infantile migraine at the same time.     

Chronic supraventricular tachycardia in infancy and childhood.

The results of a one to 19 year follow-up study of 9 children with supraventricular tachycardia of more than one month's duration are reported. The ECG diagnosis of tachycardia was made before birth in one patient and between the ages of 8 months and 12 years in 8. Four had sustained and 4 had repetitive tachycardia, while one patient had both patterns at different times. Reciprocal rhythm was diagnosed in 3 patients and exit block in 2. Severe symptoms had occurred in 2 patients, but as a rule symptoms were mild or absent. No treatment abolished the arrhythmias but digitalis reduced the overall ventricular rate in 6 patients. After a duration of 1-7 years, 3 patients still had tachycardia at the follow-up. In the remaining 6 patients the tachycardia had subsided 7 months to 10 years after the onset.     

Incessant ventricular tachycardia in infancy

Two infants with incessant tachycardia uncontrolled by multiple drug treatment were thought initially to have supraventricular tachycardia. Careful examination of the 12-lead electrocardiogram suggested ventricular tachycardia, which was confirmed by electrophysiological studies. Intra-operative mapping showed that the arrhythmia arose from the posterior left ventricular free wall in one infant and at the left ventricular apex in the other. Cryoablation of these foci led to cessation of ventricular tachycardia. Myocardial biopsy showed hamartomatous involvement in the first infant and normal tissue in the other. In the first infant the incessant arrhythmia was cured but in the other it recurred 4 months later. The origin of the recurrent tachycardia was adjacent to the previously cryoablated arrhythmogenic area. This area was also cryoablated, leading to disappearance of the ventricular tachycardia. Both patients are free of arrhythmia 10 months and 3 months after their surgery. Surgically ablatable lesions are common in infants with incessant ventricular tachycardia. Early diagnosis and prompt surgical treatment usually can effect 'cure' of this potentially fatal problem in childhood.     

Solitary mastocytoma causing recurrent blistering in infancy.

Two children with solitary mastocytoma in infancy, both of whom had recurrently blistering scalp lesions, are reported in order to emphasise the diagnostic importance of this distinctive history.