Internal Medicine

0521779407-15 CUNY1086/Karliner 0 521 77940 7 June 7, 2007 18:43

Nephrogenic Diabetes Insipidus Neurofibromatosis 1043

follow-up

■To monitor electrolytes and response to therapy

■Close observation during episodes of fluid loss such as vomiting or

diarrhea

complications and prognosis

■Infants with repeated episodes of hypernatremia may have develop-

mental delay.

NEUROFIBROMATOSIS

TOR SHWAYDER, MD

history & physical

Basic Criteria

■NF-1 diagnosed by 2 or more of the following 7 criteria:

➣Sixormorecaf ́e-au-lait macules (CALM) (>5 mm in children,

>15 mm in adults)

Occur at birth and later on (80% will have 5 CALMs by age 1 yr)

Increase in number through adulthood

Randomly distributed over body

Most are 2–15 mm

➣Two or more neurofibromas (usually by early teens) or one plexi-

form neurofibroma (seen in childhood, 25%)

➣Axillary or inguinal freckling (Crowe’s sign) (75% of pts w/ NF-1

have this)

➣Optic glioma (present in childhood)

➣Two or more Lisch nodules (Iris hamartomas)

Infrequent <6 years old

50% by age 30, 100% by age 60

Need slit-lamp exam to tell for sure

➣Bone lesions (seen in childhood)

Scoliosis 10–30%

Pseudoarthrosis – bowing of long bones (tibia most common,

also seen in ulna, radius, clavicle, femur. Represents failure of

union after fracture.)

Long bone problems

Scalloping of cortex

Lytic areas resembling fibrous cortical defects