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CAFE-au-lait spots, SEIZURES, large HEAD. AR. dx?

User Spektre
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Final answer:

The combination of CAFE-au-lait spots, seizures, and a large head with an autosomal recessive inheritance pattern is suggestive of Neurofibromatosis Type 1 (NF1), a neurocutaneous disorder.

Step-by-step explanation:

The description of symptoms such as CAFE-au-lait spots, seizures, and a large head, coupled with the fact that the condition follows an autosomal recessive (AR) pattern of inheritance, suggests the diagnosis of a neurocutaneous disorder, particularly Neurofibromatosis Type 1 (NF1). It's worth noting that a definitive diagnosis would require a detailed medical history, physical examination, and potentially genetic testing, but these clinical signs are closely associated with NF1.

User Margeaux
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