Pediatric Annals

Firm Rounds 

A 4-year-old Girl with Neurofibromatosis Type 1 and Hepatosplenomegaly

Robert Listernick, MD

Abstract

This 4-year-old girl was first seen in the Neurofibromatosis Clinic at age 4 years for evaluation of neurofibromatosis type 1 (NF1). She had been diagnosed at 2 years on the basis of multiple café au lait spots and intertriginous freckling. A magnetic resonance imaging (MRI) scan performed at the time was said to have been normal. She had also been diagnosed at the time as having multiple juvenile xanthogranulomas (JXG) mainly on her abdomen. She had been getting complete blood counts every 4 to 6 months because of that diagnosis. Developmentally, she’s doing very well. She is in a preschool program receiving some speech therapy, but is otherwise keeping up with her peers. The family history is unremarkable for any member with NF1 or multiple café au lait spots.

Key Learning Points

  1. There are seven diagnostic criteria of which one needs two or more to establish the diagnosis of NF1. These include six or more café au lait spots greater than 0.5 cm in children or 1.5 cm in adults, axillary or inguinal freckling, two or more neurofibromas or one plexiform neurofibroma, an optic pathway tumor, a characteristic bony lesion (either dysplasia of the sphenoid bone or a long bone, most commonly the tibia), two or more iris Lisch nodules, and a positive family history.
  2. Juvenile xanthogranulomas (JXG), which are benign histiocytic disorders of the skin, are small yellowish papules. There is an association between JXG and the development of juvenile myelomonocytic leukemia (JMML).
  3. The sensitivity of the Monospot test increases with age; whereas it is only positive in 10% to 20% of young children who have proven Epstein-Barr virus (EBV) infections, the sensitivity is closer to 70% to 80% in adolescents who have infectious mononucleosis.
  4. Sarcoidosis tends to present in children under the age of 5 years with skin, eye, and joint disease, whereas older children tend to have disease affecting the lungs, lymph nodes, and eyes (uveitis).

ABOUT THE AUTHOR

Dr. Listernick is professor of pediatrics at Feinberg School of Medicine, Northwestern University, and director of the Diagnostic and Consultation Service, Division of General Academic Pediatrics, Children’s Memorial Hospital, Chicago, IL.

Abstract

This 4-year-old girl was first seen in the Neurofibromatosis Clinic at age 4 years for evaluation of neurofibromatosis type 1 (NF1). She had been diagnosed at 2 years on the basis of multiple café au lait spots and intertriginous freckling. A magnetic resonance imaging (MRI) scan performed at the time was said to have been normal. She had also been diagnosed at the time as having multiple juvenile xanthogranulomas (JXG) mainly on her abdomen. She had been getting complete blood counts every 4 to 6 months because of that diagnosis. Developmentally, she’s doing very well. She is in a preschool program receiving some speech therapy, but is otherwise keeping up with her peers. The family history is unremarkable for any member with NF1 or multiple café au lait spots.

Key Learning Points

  1. There are seven diagnostic criteria of which one needs two or more to establish the diagnosis of NF1. These include six or more café au lait spots greater than 0.5 cm in children or 1.5 cm in adults, axillary or inguinal freckling, two or more neurofibromas or one plexiform neurofibroma, an optic pathway tumor, a characteristic bony lesion (either dysplasia of the sphenoid bone or a long bone, most commonly the tibia), two or more iris Lisch nodules, and a positive family history.
  2. Juvenile xanthogranulomas (JXG), which are benign histiocytic disorders of the skin, are small yellowish papules. There is an association between JXG and the development of juvenile myelomonocytic leukemia (JMML).
  3. The sensitivity of the Monospot test increases with age; whereas it is only positive in 10% to 20% of young children who have proven Epstein-Barr virus (EBV) infections, the sensitivity is closer to 70% to 80% in adolescents who have infectious mononucleosis.
  4. Sarcoidosis tends to present in children under the age of 5 years with skin, eye, and joint disease, whereas older children tend to have disease affecting the lungs, lymph nodes, and eyes (uveitis).

ABOUT THE AUTHOR

Dr. Listernick is professor of pediatrics at Feinberg School of Medicine, Northwestern University, and director of the Diagnostic and Consultation Service, Division of General Academic Pediatrics, Children’s Memorial Hospital, Chicago, IL.

This 4-year-old girl was first seen in the Neurofibromatosis Clinic at age 4 years for evaluation of neurofibromatosis type 1 (NF1). She had been diagnosed at 2 years on the basis of multiple café au lait spots and intertriginous freckling. A magnetic resonance imaging (MRI) scan performed at the time was said to have been normal. She had also been diagnosed at the time as having multiple juvenile xanthogranulomas (JXG) mainly on her abdomen. She had been getting complete blood counts every 4 to 6 months because of that diagnosis. Developmentally, she’s doing very well. She is in a preschool program receiving some speech therapy, but is otherwise keeping up with her peers. The family history is unremarkable for any member with NF1 or multiple café au lait spots.

Key Learning Points

  1. There are seven diagnostic criteria of which one needs two or more to establish the diagnosis of NF1. These include six or more café au lait spots greater than 0.5 cm in children or 1.5 cm in adults, axillary or inguinal freckling, two or more neurofibromas or one plexiform neurofibroma, an optic pathway tumor, a characteristic bony lesion (either dysplasia of the sphenoid bone or a long bone, most commonly the tibia), two or more iris Lisch nodules, and a positive family history.
  2. Juvenile xanthogranulomas (JXG), which are benign histiocytic disorders of the skin, are small yellowish papules. There is an association between JXG and the development of juvenile myelomonocytic leukemia (JMML).
  3. The sensitivity of the Monospot test increases with age; whereas it is only positive in 10% to 20% of young children who have proven Epstein-Barr virus (EBV) infections, the sensitivity is closer to 70% to 80% in adolescents who have infectious mononucleosis.
  4. Sarcoidosis tends to present in children under the age of 5 years with skin, eye, and joint disease, whereas older children tend to have disease affecting the lungs, lymph nodes, and eyes (uveitis).

ABOUT THE AUTHOR

Dr. Listernick is professor of pediatrics at Feinberg School of Medicine, Northwestern University, and director of the Diagnostic and Consultation Service, Division of General Academic Pediatrics, Children’s Memorial Hospital, Chicago, IL.

10.3928/00904481-20081001-05

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