Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome.

We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine was added to valproate therapy. The patient had typical findings of both Angelman and Lennox-Gastaut syndromes. Chromosome analysis performing by FISH analysis showed a deletion in chromosome 15 (q11.2 q11.2). Although some cases of Angelman syndrome associated with Lennox-Gastaut syndrome were reported in the literature, valproate and/or lamotrigine induced toxic hepatitis in Angelman syndrome has hitherto never been described. We conclude that VPA and LTG combination should be given with great caution or avoided in patients with Angelman syndrome.

Masturbation mimicking seizure in an infant.

A 3.5-month-old boy was referred to our hospital with the diagnosis of infantile spasm. His developmental milestones and physical examination were normal. During the follow-up we recorded about six to nine attacks a day and the duration of attacks was changed between 15 seconds-1.5 minutes. During the episodic attacks he was flushed and had tonic posturing associated with crossing of thighs, without loss of consciousness and his eye movements were normal. Routine and long-term electroencephalogram (EEG) were normal during attack. The patient was diagnosed as masturbation according to the clinical and EEG findings. In conclusion, we would like to stress that masturbation should also be considered in infants who were admitted with complaint of seizure, and aside from EEG monitoring a detailed history and careful observation are very important factors in differential diagnosis of these two different conditions.

Isolated deficiency of glucocorticoids presenting with cholestasis.

BACKGROUND: Isolated deficiency of glucocorticoids is characterized by elevated levels of adrenocorticotropin (ACTH) and normal aldosterone production. It is rare for isolated deficiency of glucocorticoids to be associated with liver involvement. A case of an infant with isolated deficiency of glucocorticoids presenting with cholestasis is presented in this article. A male infant on his 39th postnatal day was referred to our hospital for evaluation of prolonged jaundice and convulsion. He had two episodes of hypoglycemic convulsion on postnatal 8th and 39th day, after which he was admitted to our hospital. RESULTS: Physical examination revealed systemic jaundice, hyperpigmentation of the skin, hepatomegaly and splenomegaly on admission. He had normal male genitalia with 3.5 cm of penis and bilateral scrotal testes. Laboratory values were as follows: glucose 45 mg/dL, total biluribin 18.14 mg/dL, direct biluribin 6.54 mg/dL, aspartate aminotransferase 378 IU/L, alanine aminotransferase 46 IU/L, and alkaline phosphatase (ALP) 1302 IU/L. In abdominal ultrasound and biliary tract scanning, extra- and intrahepatic biliary tracts were shown to be normal. Finally, biopsy of the liver revealed cholestasis. An endocrinological evaluation showed high levels of adrenocorticotropin (ACTH, 1000 pg/mL), low levels of cortisol (1 microgram/dL) and normal aldosterone levels. CONCLUSIONS: The diagnosis of cholestasis secondary to isolated glucocorticoid deficiency was suspected with clinical and laboratory findings. Hydrocortisone treatment (30 mg/m2 per day) was initiated after which hyperpigmentation and jaundice decreased and ACTH and ALP levels reduced to 39 pg/mL and 440 IU/l, respectively. We emphasize that cholestasis in infants may be a component of isolated deficiency of glucocorticoids.

The effect of nursing or rampant caries on height, body weight and head circumference.

In this study, the effect of nursing bottle caries and rampant caries on height, weight and head circumference was evaluated. For this purpose, 126 children, aged 3 to 5 years old, who have nursing or rampant caries were selected. One hundred twenty-six children with no caries and similar age and sex were matched as a control group. When the children who had rampant or nursing caries were evaluated in the direction of the mean weight, it was corresponding to mean weight between 25th and 50th percentiles. The mean percentile weight for control group were corresponding to mean weight between the 50th and 75th percentiles. Of the nursing or rampant caries children, 7.1% weighed less than 80% of their ideal weight, compared with only 0.7% of the control group children. When the children, who had rampant or nursing caries, were evaluated in the direction of the mean height, it was corresponding to mean height between 10th and 25th percentiles. The mean percentile height for control group were corresponding to mean height between the 25th and 50th percentiles. When the head circumference is evaluated, there was no significant statistical difference between the two groups. Since the height and weight of the control group showed a higher percentile category than the nursing or rampant caries group, (P<0.001), it can be stated that rampant or nursing caries may correlate with adversely affected growth of the body.

Infantile acute hemorrhagic edema: a variant of leukocytoclastic vasculitis.

Infantile acute hemorrhagic edema (IAHE) is a leukocytoclastic vasculitis that is confined to the skin without visceral involvement. Edema and purpuric lesions characterize the disease. The disorder has a dramatic onset, with a short, benign course and spontaneous resolution within several weeks. The clinical similarities between IAHE and Henoch-Shönlein purpura have been discussed in the literature. We report three infants with IAHE and discuss the clinical, laboratory, and histopathologic features of the disease. We suggest that it should be regarded as a separate entity for appropriate diagnostic investigations and therapy.

Congenital heart disease and Robinow syndrome.

We present a 6-month-old infant with Robinow syndrome and tricuspid atresia (type Ia). Up to now, at least 67 cases of Robinow syndrome have been published including nine cases with a congenital heart defect (CHD). As in our case, the majority of the CHD were right ventricular outflow obstruction. Robinow syndrome with CHD is not rare and in all cases of Robinow syndrome detailed cardiologic evaluation and echocardiography should be performed.

Focal dermal hypoplasia (Goltz syndrome) with horseshoe kidney abnormality.

A 10-year-old girl had focal dermal hypoplasia (Goltz syndrome). She showed the characteristic skin manifestations, mental and physical underdevelopment, and facial, dental, skeletal, ophthalmologic, and urinary abnormalities. In addition, she had a horseshoe kidney abnormality.