ABETALIPOPROTEINEMIA TREATED WITH PARENTERAL AND ORAL VITAMINS A AND E, AND WITH MEDIUM CHAIN TRIGLYCERIDES

ABSTRACT. An 11-year-old girl with abetalipoproteinemia was treated with parenteral vitamin A and vitamin E for two and a half years. Some improvement in neurological and visual deficits was noted. On changing to oral vitamin E and later with addition of medium chain triglycerides (MCT) to the diet, a considerable improvement in her general wellbeing, neuromuscular lesions and ophthalmological symptoms was noted. This regimen is being adhered to for five and a half years. The condition is stable with no further improvement.     

Esophageal achalasia and alacrima in siblings

Achalasia of the esophagus is a rare problem in children. It has been reported in siblings of consanguineous parents. Allgrove or AAA (triple-A) syndrome is an autosomal recessive condition associated with adrenal insufficiency, alacrima and achalasia of the oesophagus. We present two siblings with familial achalasia and alacrima treated at 3 months and 9 years respectively.     

Residual bladder dysfunction 2 to 10 years after acute transverse myelitis

OBJECTIVE: Acute transverse myelitis (ATM) is a relatively rare condition in children. The recovery rate is reported to be generally complete. In the current study, the long-term urological outcome of children with ATM was assessed. METHODOLOGY: The medical records of children with ATM admitted to Queen Mary Hospital, Hong Kong, over the last 15 years, were reviewed. RESULTS: The median age of the five children with ATM at the time of onset was 6 years (range = 2-12 years). The median length of follow up was 5 years (2-10 years). Four children recovered completely from paraparesis; two had no urinary symptoms with normal micturition. However, video-urodynamic studies 3 years after the acute onset revealed that four out of the five children, including one without any urinary symptom, suffered from residual bladder dysfunction - two from contractile neurogenic bladder and two from intermediate type of neurogenic bladder. CONCLUSION: Residual bladder dysfunction is common in children suffering from ATM despite improvement of paraparesis and apparent lack of urological symptoms. Long-term follow up of urological function in these patients is recommended.     

Female hypospadias with neurogenic bladder

Female hypospadias is a rare anomaly in which the urethral orifice is located on the anterior vaginal wall close to the introitus. The condition is also associated with a neurogenic voiding disorder that is poorly understood [3]. We report two children aged 3 and 9 years who were managed with clean intermittent catheterization after a Mitrofanoff operation.     

Post-radiotherapy hyperthyroidism: a rare complication of cancer treatment in the child]

Abnormalities of thyroid function, specially hypothyroidism, are common complications of head and neck irradiation for childhood cancer. Hyperthyroidism is rare and can be misdiagnosed. We report two observations of this condition. OBSERVATIONS: The first patient received conventional craniospinal irradiation for a localized medulloblastoma. Three years later, he presented with profuse sweating, irritability and paroxysmal tachycardia. Biologic evaluation revealed a peripheral hyperthyroidism. The patient was treated with antithyroidian hormonal treatment. The second patient received an irradiation for an undifferentiated nasopharyngeal carcinoma. Three years later, she developed a progressive thyrotoxicosis which was attributed to hyperthyroidism after six months of evolution. Hormonal treatment improved the clinical state after several weeks. CONCLUSION: Hyperthyroidism is a rare complication of head and neck irradiation. This condition justifies a periodic and prolonged evaluation of thyroid function.     

A Case of Multiple Pterygium Syndrome Associated with Chronic Idiopathic Intestinal Pseudo-Obstruction Syndrome

Multiple pterygium syndrome (MPS) is a rare condition characterized by pterygia of the neck, finger, antecubital, popliteal, and intercrural areas. The present case study describes a male patient afflicted with this condition. This case has two unique features 1) the patient exhibited both mental and physical retardation at 2 years of age, a rare symptom of this disorder, and 2) the patient also had chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS). Although the pathogenesis of both MPS and CIIPS is unclear, some features of the present case suggest a possible pathogenic mechanism.     

Benign paroxysmal torticollis of infancy: An underdiagnosed condition

Benign paroxysmal torticollis is probably an under‐diagnosed condition of infancy. It is a self‐limiting disorder characterised by periods of unusual, sustained posture of the head and neck, during which the head tilts to one side. Episodes are often accompanied by marked autonomic features, irritability, ataxia, apathy and drowsiness. They last several hours to a few days and are often recurring every few weeks. They subside within the pre‐school years; however, during later childhood, there is a tendency to develop migraine. Three cases of benign paroxysmal torticollis are presented and are compared with cases in the literature. A telephone survey has been conducted to determine what is the general awareness of paediatricians of this condition in Cyprus. Eighty‐two paediatricians were randomly selected out of 235 paediatricians. All of them agreed to participate. Our cases revealed that benign paroxysmal torticollis may coexist with other problems during infancy. The telephone survey showed that only two out of eighty‐two (2.4%) of the paediatricians are aware of the condition, and none of them was confident regarding the management. Our telephone survey clearly shows that Cypriot paediatricians are not familiar with benign paroxysmal torticollis in infancy which is a benign, self‐limiting disorder. It is essential to recognise the condition and to reassure parents of its benign course and not to be misdiagnosed for other disorders, such as epileptic seizures. We have shown again that benign paroxysmal torticollis in infancy may coexist with motor delay and hearing problems.     

Sixty-four children with persistent itching nodules and contact allergy to aluminium after vaccination with aluminium-adsorbed vaccines—prognosis and outcome after booster vaccination

Persistent itching subcutaneous nodules and aluminium (Al) allergy have been described after vaccination with Al-adsorbed vaccines but are considered rare. Little is known about the prognosis. Sixty-four children with itching nodules following vaccination with diphtheria–tetanus–pertussis (DTP) vaccines currently used in Sweden (Infanrix® and Pentavac®) were spontaneously reported to the authors from 1999 and followed for up to 12 years. The median duration of itching was 5 years in the 44 children who were free or almost free from symptoms at the latest follow-up. Typical findings were a long interval between vaccination and onset of symptoms (months or years) and intensified itching during intercurrent infections. Contact allergy to aluminium was demonstrated in 60/63 children (95 %). Neither the incidence nor differences between the two vaccines can be estimated from this study, but vaccine-induced itching nodules are probably more common than hitherto realised. The median interval between onset of symptoms and diagnosis was 8 months in a region where nurses were educated to recognise the condition compared to 2 years in other regions. Booster vaccination with DTP-polio was postponed or declined by 15/40 families in fear for new problems. Out of 25 children who received a booster dose, only two had new itching nodules. Conclusion: Intensely itching subcutaneous nodules (vaccination granulomas) and contact allergy to aluminium may occur after primary vaccination with the two most commonly used DTP vaccines in Europe. The condition is probably underreported. Symptoms may last for at least 4–5 years but eventually seem to subside.     

Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia

Diastematomyelia is a rare form of spinal dysraphism. Here the spinal cord was split into two with a bony or cartilaginous spur, resulting in formation of two hemicords. The prenatal diagnosis of diastematomyelia is possible with ultrasonography. The unique finding is the appearance of echogenic focus within the spinal canal. This condition may not have any clinical sign during prenatal and early years of life but as the child grows, serious neurologic manifestations may occur, commonly termed the “tethered cord syndrome”. Here, we report a case of diastematomyelia in which a careful antenatal imaging was performed and postnatal pathologic examination confirmed the diagnosis.     

Thrombocytopenia with bilateral absence of the radius (TAR syndrome). Reports of 2 clinical cases

Thrombocytopenia with bilateral absent radii (TAR syndrome) is a hereditary condition with a recessive autosomic character. It is characterised by a series of hematological, skeletal and cardiac alterations, and also by various clinical manifestations. The frequency of this syndrome is very low. During the first months of life, prognosis is related to the severity of hemorrhage, but it improves after two years. Diagnosis is at times complex owing to the similarity between this and other syndromes. Therapy, especially during the first year of life, is based on blood transfusion. The paper describes clinical findings in two subjects admitted to the Istituto di Clinica Pediatrica. The two cases presented diverse degrees of hematological and skeletal involvement and followed different clinical evolutions.     

Pseudo-precocious puberty caused by bilateral idiopathic testicular hyperplasia

A boy aged two years presenting with advanced development of the genitalia, but with prepubertal testes, and accelerated growth is described. Investigation indicated pseudo-precocious puberty, due to idiopathic interstitial cell hyperplasia. Difficulties in interpretation of the hormonal studies were encountered due to an aberrant left testicular vein. This rare condition which has been called Testotoxicosis is probably due to an inborn error of metabolism not yet identified.     

Twelve cases of analgesic headache

Analgesic headache occurs when drugs given for the treatment of headache aggravate symptoms. The condition is well recognised in adults but has not been described before in children in whom it may be induced by mild analgesics such as paracetamol used alone. Twelve children (nine girls and three boys, aged 6 to 16.5 years) with analgesic headache (from three months to 10 years) are reported. Five children were taking paracetamol alone, six were taking paracetamol with codeine, and one child was taking ibuprofen. The abrupt withdrawal of analgesic drugs was successful in eight of the children; two had episodic migraine headaches; one had headaches but with reduced frequency; and one returned to analgesic abuse.     

Pseudo-precocious Puberty Caused by Bilateral Idiopathic Testicular Hyperplasia

ABSTRACT. A boy aged two years presenting with advanced development of the genitalia, but with prepubertal testes, and accelerated growth is described. Investigation indicated pseudo-precocious puberty, due to idiopathic interstitial cell hyperplasia. Difficulties in interpretation of the hormonal studies were encountered due to an aberrant left testicular vein. This rare condition which has been called Testotoxicosis is probably due to an inborn error of metabolism not yet identified.     

Late respiratory outcomes after preterm birth

Chronic respiratory morbidity is common following premature birth, particularly if complicated by bronchopulmonary dysplasia (BPD) development. Affected patients can remain oxygen dependent for many months, but unusually beyond two years. Those requiring supplementary oxygen at home have increased healthcare utilisation, even during the preschool years when no longer oxygen dependent. More than 50% of "BPD" patients require readmission in the first two years, particularly for respiratory infections. Prematurely born children, especially those who had BPD, are more likely to suffer frequent troublesome symptoms at school age and in adolescence than term born controls. This is associated with evidence of airways obstruction. Although lung function improves as the clinical condition improves, abnormalities can be detected even in young adults who had severe BPD. Nowadays, severe BPD is uncommon, but those with "new" BPD may have abnormal antenatal lung growth, whether they achieve appropriate catch up lung growth needs careful investigation.     

Traumatic atlanto-occipital dislocation in children: review and report of five cases

Traumatic atlanto-occipital dislocation has usually been considered incompatible with life. However, reports on survivors stress the need for early clinical diagnosis of this condition, particularly in the context of multiple trauma, in order to avoid life-threatening diagnostic manipulations and to provide adequate treatment. Five instances of atlanto-occipital dislocation in children observed during the last two years prompted this report, since four of them survived only temporarily. The radiologic and computed tomographic (CT) findings have been reevaluated. Use of metrizamide CT is advised in clinically suspected cases with inconclusive radiologic workup.     

The Significance of Focal Global Sclerosis in Idiopathic Nephrotic Syndrome

ABSTRACT. The clinical course of five pediatric patients with idiopathic nephrotic syndrome associated with focal global sclerosis in renal biopsy was analyzed retrospectively. The condition was defined as complete obsolescence of more than 15 % of glomeruli associated with tubular atrophy and interstitial fibrosis. At onset, all children had a steriod-sensitive relapsing nephrotic syndrome. Two became steroid-dependent and one steroid-resistent. Cyclophosphamide or chlorambucil treatment was initially followed by remission in all patients; a second course was successful in one of two patients. After 12 to 18 years of observation, four patients are in remission for periods of 2 to 12 years. Glomerular filtration rate is slightly reduced in only one patient. This study suggests that the clinical course of children with idiopathic nephrotic syndrome associated with focal global sclerosis is similar to that observed in patients with minimal glomerular changes but different from that in patients with focal segmental sclerosis.     

Differential susceptibility to prevention: GABAergic,dopaminergic, and multilocus effects

Background: Randomized prevention trials provide a unique opportunity to test hypotheses about the interaction of genetic predispositions with contextual processes to create variations in phenotypes over time. Methods: Using two longitudinal, randomized prevention trials, molecular genetic and alcohol use outcome data were gathered from more than 900 youths to determine whether prevention program participation would, across 2 years, moderate genetic risk for increased alcohol use conferred by the dopaminergic and GABAergic systems. Results: We found that (a) variance in dopaminergic (DRD2, DRD4, ANKK1) and GABAergic (GABRG1, GABRA2) genes forecast increases in alcohol use across 2 years, and (b) youths at genetic risk who were assigned to the control condition displayed greater increases in alcohol use across 2 years than did youths at genetic risk who were assigned to the prevention condition or youths without genetic risk who were assigned to either condition. Conclusions: This study is unique in combining data from two large prevention trials to test hypotheses regarding genetic main effects and gene × prevention interactions. Focusing on gene systems purported to confer risk for alcohol use and abuse, the study demonstrated that participation in efficacious prevention programs can moderate genetic risk. The results also support the differential susceptibility hypothesis that some youths, for genetic reasons, are more susceptible than others to both positive and negative contextual influences.     

The significance of focal global sclerosis in idiopathic nephrotic syndrome. Long-term clinical observations

The clinical course of five pediatric patients with idiopathic nephrotic syndrome associated with focal global sclerosis in renal biopsy was analyzed retrospectively. The condition was defined as complete obsolescence of more than 15% of glomeruli associated with tubular atrophy and interstitial fibrosis. At onset, all children had a steroid-sensitive relapsing nephrotic syndrome. Two became steroid-dependent and one steroid-resistant. Cyclophosphamide or chlorambucil treatment was initially followed by remission in all patients; a second course was successful in one of two patients. After 12 to 18 years of observation, four patients are in remission for periods of 2 to 12 years. Glomerular filtration rate is slightly reduced in only one patient. This study suggests that the clinical course of children with idiopathic nephrotic syndrome associated with focal global sclerosis is similar to that observed in patients with minimal glomerular changes but different from that in patients with focal segmental sclerosis.     

CONGENITAL HEART DISEASE IN CHILDREN UNDER TWO YEARS OF AGE

During the years 1956–1959 inclusive 201 children under 2 years of age were referred to hospital for investigation for congenital heart disease. In 31 cases, clinical and radiographic examination revealed normal conditions; in 13 cases, continued clinical observation was indicated. Congenital heart disease was revealed in 157. Of these, 59 were not subjected to cardiac cathe-terisation, either because they were in a very poor condition and died before the examination could be accomplished, or because their condition was so good that catheterisation, with advantage, could be postponed until the age of 3–4 years. Catheterisation was performed in 98, including 44 who were also subjected to angiocardiography. Of these 98 cases, 80 were fully clarified; the principal anomaly was disclosed in nine; the diagnosis was uncertain in seven (including three in whom catheterisation was unsuccessful); erroneous diagnoses were made in two. Death occurred in one case.