Cardiovocal syndrome in an infant with a double outlet of the right ventricle

A 9-month-old boy with cardiovocal syndrome-paralysis of the left recurrent laryngeal nerve, and congenital heart disease — a double outlet of the right ventricle and pulmonary arterial hypertension is described. He had a hoarse cry due to left recurrent laryngeal nerve paralysis, which was diagnosed by indirect laryngoscopy. Paralysis was caused by traction of the enlarged great arteries on the left recurrent laryngeal nerve. After heart surgery the infant's voice returned to normal. It is important to recognize this rare syndrome at an early stage, as it may cause difficulties in post-operative respiratory management.     

Glossoptosis-apnea syndrome in infancy

The clinical and physiologic features of 28 infants with Pierre Robin syndrome and those of 20 infants with various types of nasal obstruction were reviewed to determine whether different causes of upper airway obstructure may lead to a common syndrome. The patients had no significant differences in distribution of main clinical manifestations. Their features included cyanosis with respiratory distress, apneic spells, oropharyngeal dysphagia, vomiting, failure to thrive, cor pulmonale, brain damage, and sudden death during sleep. The common physiologic manifestation appeared to be an oropharyngeal obstruction caused by glossoptosis, which occurred mainly during wakefulness. Upper airway obstruction led to hypoxemia, which, in many instances, was not associated with hypercapnia and was not relieved by oxygen administration. It is concluded that regardless of a specific cause, any airway obstruction that results in a decreased inspiratory pressure overcoming the airway maintaining genioglossus action causes a glossoptosis-apnea syndrome.     

Yellow nail syndrome in infancy

Abstract: This report describes an infant with clinical features consistent with the yellow nail syndrome (YNS), a rare autosomal dominant disorder. He presented at birth with congenital lymphoedema and was referred at 6 months of age for investigation of recurrent cough and wheeze. He had clinical and radiological evidence of bilateral pleural effusions and a pericardial effusion. Following a lung biopsy and pericardial window these were shown to be manifestations of his lymphatic abnormality. He also had persisting middle ear effusions causing conductive deafness requiring hearing aids and secondary immunodeficiency requiring regular immunoglobulin infusions.     

Tuberculosis associated hemophagocytic syndrome in infancy

An infant presented with prolonged fever, generalized lymphadenopathy, splenohepatomegaly, anemia and seborrheic dermatitis. Investigations including bone marrow findings confirmed the diagnosis of hemo-phagocytic syndrome (HPS) and the infant succumbed. Liver biopsy features of epithelioid granuloma and positive AFB culture of gastric aspirate confirmed the diagnosis of tuberculosis (TB). This rare association of HPS and tuberculosis in infancy is reported.     

Phalangeal microgeodic syndrome of infancy

A case is described of chilblain-like lesions in the fingers with punched-out erosions in the phalanges on x-ray which appears to be an example of Maroteaux's phalangeal microgeodic syndrome of infancy.     

Cytogenetic detection of Prader-Willi syndrome in infancy

In the case of characteristic chromosomal deletion of chromosome 15(q11----q13) the diagnosis of the Prader-Willi syndrome can be already confirmed in early infancy as shown in our case report. In this connection cytogenetic high-resolution techniques are indispensable. Cytogenetic and clinical problems are discussed.     

Management of short bowel syndrome in infancy

Short bowel syndrome (SBS) is a reduction in functioning bowel length which is most often a result of surgical resection. Risk factors in the neonatal period include necrotising enterocolitis, small bowel atresia and gastroschisis. With increasing survival of preterm infants there is an increase in incidence. Management is dependent on the use of parenteral nutrition to maintain fluid and electrolyte homeostasis and promote growth and development with the longer term aim being to promote intestinal adaptation to achieve partial or complete enteral autonomy. In this review we discuss the incidence, aetiology, pathophysiology, medical and surgical treatments and outcome.