Abstract
Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and hair implantation, coarse hair and hypertrichosis. The intraoral examination showed alteration in teeth pigmentation diagnosed as amelogenesis imperfecta. Although rare, the present case report illustrates a syndrome that has dental anomalies and systemic alterations. It is important to recognize this syndrome as early as possible and paediatric dentist may contribute to the diagnosis and consequently to better manage the patients. Key words:Kohlschütter-Tönz syndrome, amelogenesis imperfecta, seizures, mental deterioration.
Highlights
Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration
We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth
Kohlschütter-Tonz Syndrome is an uncommon disorder that has been associated with an autosomal recessive inheritance
Summary
Kohlschütter-Tonz Syndrome is an uncommon disorder that has been associated with an autosomal recessive inheritance It is characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. Case Report A nine-year-old boy was referred for evaluation because of pigmentation of his teeth Her mother stated that her pregnancy was of high risk, and that she took fenobarbital during this period. The boy was born with a normal birth weight of 4.500 g (10 lbs) His past medical history revealed that he underwent amygdalectomy when he was 4 years-old. The patient is in neurological follow-up because speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems He was treated with atomoxetine hydrochloride in association with risperidone, presenting improvement in learning and behavior.
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