Normal Adult Height in an Untreated Boy With McCune-Albright Syndrome Presenting With Precocious Puberty.

Background/Objective: We present a boy with McCune-Albright syndrome (MAS)-associated precocious puberty (PP) who achieved normal adult height without treatment. Case Report: The patient presented at 10 years of age with PP and fibrous dysplasia of the right humerus. Examination showed a height 148.7 cm, Tanner 2 pubic hair and 12-15 cc testes. The Bone age (BA) was 13 years with a predicted adult height of 175 cm vs. mid parental target height of 173 cm. Laboratory parameters were as follows: luteinizing hormone (LH) 0.745 mIU/mL (0.2-4.9 mIU/mL), follicle stimulating hormone (FSH) 0.933 mIU/mL (1.8-3.2 mIU/mL), testosterone 42 ng/dL (18-150 ng/dL), inhibin B 436.6 pg/mL (41-238 pg/mL) and AMH 36.1 ng/mL (45.26-191.34 ng/mL). The DNA testing result of tissue from the right humerus was positive for GNAS p. R201C mutation confirming a diagnosis of MAS. Pubertal progression with growth spurt occurred over the next 3 years: growth velocity (GV) 12 cm/y, testosterone 116 ng/dL, LH 0.715 mIU/mL and FSH 1.3 mIU/mL at 10.6 years; GV 10.3 cm/y, BA 13 to 13.6 years, testosterone 450 ng/dL, LH 1.7 mIU/mL and FSH 1.4 mIU/mL at 11.7 years; and GV 3.8 cm/y, BA 17 years, Testosterone 668 ng/dL and LH 4.2 µIU/mL at 13.3 years. Height was 171.2 cm. Discussion: PP is reported in approximately 15% of boys with MAS. PP leads to BA advancement and reduction in final adult height. Our patient achieved normal adult height without treatment in the absence of excess growth hormone. Conclusion: Boys with MAS and PP with slow BA advancement may achieve normal adult height without treatment even in the absence of excess growth hormone.

COINCIDENT SUPPURATIVE THYROIDITIS AND GRAVES DISEASE IN A PATIENT WITH INFECTED BRANCHIAL CLEFT CYST.

OBJECTIVE: Acute suppurative thyroiditis (AST) is frequently caused by anatomic abnormalities, including branchial cleft cysts. Patients with AST are typically euthyroid, but thyrotoxicosis may occur. Thyroid antibodies are usually not present in AST. Our objective is to describe a teenage male who presented with concomitant suppurative thyroiditis and Graves disease (GD). METHODS: We report a case of an infected left branchial cleft cyst with AST and concurrent GD in an adolescent male. Thyroid function tests and thyroid imaging were used for diagnostic evaluation, and the patient was managed with antibiotics, analgesia, and surgery. RESULTS: A 17-year-old male with a history of an infected left fourth branchial cleft cyst presented with recurrence of neck pain, odynophagia, and fever. Serum labs showed thyrotoxicosis and elevated thyroid antibodies and inflammatory markers. Magnetic resonance imaging showed an abscess adjacent to the left thyroid lobe. Symptoms resolved after antibiotic therapy, but laboratory tests showed persistent subclinical thyrotoxicosis. Four months later, he underwent excision of the branchial cleft cyst and left thyroid lobe. Two months after surgery, evaluation showed overt thyrotoxicosis with laboratory tests confirming GD. Methimazole was initiated and thyroid function subsequently normalized. CONCLUSION: This patient manifested a rare coincidence of AST due to a branchial cleft cyst and autoimmune thyroid disease. Further studies are needed to determine if there is any relationship between AST and development of thyroid autoimmunity. Assessment of thyroid autoimmunity may be considered in patients with prior or recurrent AST.

A Series of 211 Children with Probable Essential Tremor.

BACKGROUND: The objective of this study was to characterize the clinical features, course, and treatment of essential tremor (ET) in children. METHODS: A retrospective chart review was conducted over 25 years (1984-2011). Inclusion criteria were age <21 years and satisfying the core diagnostic criteria for ET. Primary exclusion criteria included other neurological findings, tremorogenic medications, sudden onset/stepwise progression, primary orthostatic tremor, and isolated task specificity; and secondary exclusion criteria were abnormal neuroimaging or metabolic/thyroid studies. Cases were reviewed for age, sex, family history, tremor characteristics, functional impairment, treatment, and follow-up. RESULTS: In total, 211 children had ET, including 130 males and 81 females. The mean ± standard deviation age was at diagnosis was 14.09 ± 5.0 years, the age of onset was 9.71 ± 5.62 years, and the age of onset was birth in 7 children. One hundred ninety-nine children had bilateral hand tremor, 34 had asymmetry, 9 had unilateral onset but later became bilateral. Twelve children had voice tremors, 13 had leg tremors, 5 had head tremors, and 7 had trunk tremors. Tremor at rest was present in 20 children. Thirty-five percent of the children had a family history of ET, including in a father (n = 21), mother (n = 13), brother (n = 6), sister (n = 3), and other family member (n = 28). Fifty-five percent of patients had functional disabilities, including writing (n = 66), eating (n = 28) drinking from a cup (n = 13), typing (n = 4), playing instruments (n = 6), buttoning (n = 6), and playing (n = 3). For treatment, 33 patients received propranolol, 1 received atenolol, 13 received primidone, 3 received metoprolol, and 1 received nadolol. In total, 99 patients were followed for a mean ± standard deviation of 1.82 ± 2.21 years.If left untreated, tremor remained unchanged in 33 patients, and 7 had an apparent short-term improvement. On propranolol, 15 of 20 patients significantly improved. CONCLUSIONS: This is the largest series to date of ET in children. The current findings indicate that onset at birth is possible, family history is less common in children than in adults, and tremor at rest is possible. Functional disability was noted in 55% of children, and 29.4% required medication.