Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease with multisystem involvement. CASE: Here, a mother and infant couple was presented with maternal and fetal TSC including demonstrative clinical findings and genetic analysis. The interesting point of this case report is that maternal and fetal TSC was identified after the mother gave birth to a child with a cardiac rhabdomyoma. The genetic analysis revealed a novel mutation which was the same in both the mother and her infant. CONCLUSION: We would like to bring to the attention of clinicians this entity and to emphasize that maternal and fetal TSC can adversely affect maternal and fetal health, and deserves close follow up. Our recommendation is that if cardiac rhabdomyoma/cortical tuber/renal angiomyolipoma are present in prenatal ultrasonography, the parents should be evaluated for TSC.

Collodion baby case series: the success of oral retinoic acid.

Ichthyosis is a clinical skin cornification disorder characterized by hyperkeratosis. Lamellar ichthyosis is a rare form of ichthyosis (collodion baby), which is autosomal recessive. Diagnostic clinical findings can be confirmed with skin biopsy and genetic analysis. The principles of treatment are moistening the skin, prevention of dehydration, and use of keratolytic agents. Systemic retinoic acid (0.5-1 mg/kg/day) is reported to provide dramatic benefits in the treatment of lamellar ichthyosis and congenital ichthyosiform erythroderma. In this study, the efficiency of oral retinoic acid treatment is presented to show a dramatic improvement in five patients who were diagnosed as collodion babies and admitted to The Neonatal Intensive Care Unit after birth. None had other congenital problems. Only two patients were diagnosed as having sepsis. Hair loss was the only adverse effect of treatment in all five patients. With this series of collodion baby, we wanted to the draw the attention of physicians to the promising efficacy of retinoic acid.

Successful implantation of an intracardiac defibrillator in an infant with long QT syndrome and isolated noncompaction of the ventricular myocardium.

Congenital long QT syndrome (LQTS) is an inherited disorder characterized by QT prolongation and polymorphic ventricular tachycardia known as torsade de pointes. The underlying cellular mechanism is prolonged ventricular repolarization caused by mutations in genes encoding cardiac ion channels or membrane adaptors. The disease can be diagnosed at any age and, very rarely, it can be diagnosed prenatally or in the neonatal period. Isolated noncompaction of the ventricular myocardium (INCVM) is defined as the presence of prominent ventricular trabeculations and deep intertrabecular recesses within the endomyocardium. This report describes a newborn baby presenting with polymorphic ventricular tachycardia whose diagnosis was LQTS and INCVM. Ventricular tachycardia did not respond to medical treatment, and a transient epicardial pacemaker was inserted surgically on his 30th day of life for atrioventricular block and bradycardia. The transient epicardial pacemaker was upgraded to an epicardial intracardiac defibrillator on his 40th day. The concomitant occurrence of INCVM, LQTS, and atrioventricular block needs to be evaluated further.

Acute, reversible nonoliguric renal failure in two children associated with analgesic-antipyretic drugs.

Analgesic-antipyretic agents and nonsteroidal anti-inflammatory drugs are the most commonly used medications worldwide for the treatment of pain and fever in children. Acute renal failure is commonly seen in adults after treatment with analgesic agents. This complication has rarely been reported in children. Here, we describe 2 patients admitted to our hospital with acute nonoliguric renal failure temporally associated with ingestion of analgesic-antipyretic drugs at therapeutic doses. The first case was a 16-year-old adolescent boy, who had taken acetaminophen (APAP) and mefenamic acid for the indication of upper respiratory tract infection with daily doses of 1500 and 500 mg, respectively. His serum urea nitrogen and creatinine values were 16 and 1.6 mg/dL. The second case was a 12-year-old boy, who had taken APAP with a daily dose of 500 mg for abdominal pain. His serum urea nitrogen and creatinine values were 21 and 2.29 mg/dL. Both of them recovered with appropriate hydration within a week. Over-the-counter analgesic-antipyretic agents seem innocent but carry the risk of acute renal failure even at therapeutic doses. We believe that increased caution and awareness of the toxic effects of APAP and nonsteroidal anti-inflammatory drugs are needed. We suggest that clinicians should be careful while using analgesic-antipyretic-anti-inflammatory drugs especially in children with subclinical dehydration.

Laryngitis and neutropenia from parvovirus-B19.

Parvovirus-B19 has been reported a rare cause of acute laryngitis. Here, we described an 11-month-old girl who had prolonged acute laryngitis and neutropenia associated with parvovirus-B19 infection. Intravenous immunoglobulin therapy resulted in resolution of her symptoms, except neutropenia. We concluded that parvovirus-B19 can cause prolonged laryngitis and intravenous immunoglobulin treatment should be considered.

Cerebral palsy due to nonlethal maternal carbon monoxide intoxication.

BACKGROUND: Carbon monoxide (CO) poisoning in pregnancy is a relatively rare occurrence, but it can result in fetal mortality and neurologic complications in fetuses who survive to term. CASE: We describe the course of an infant who was acutely exposed to CO at 20 weeks of gestation. CONCLUSIONS: We conclude that despite maternal well-being, CO intoxication at critical periods of human brain development can lead to hypoxic-ischemic lesions in the globus pallidus and that dystonic cerebral palsy may develop in the infant during long-term follow-up.