rapid massive weight gain 6.3.2013

7/28/2019 Rapid Massive Weight Gain 6.3.2013

1/15

Mark Rowan MD/PGY-2


2/15

12 yo F Doubled her weight (80 -> 160 lbs.) over a 4 month period. She eats and

eats w/o ever feeling satisfied. Polydipsia and polyuria/urinary frequency Noticed a swelling in her left neck a few months ago, been gradually

enlarging Intermittent low-grade fevers x1 month, but none in the last 24 hrs Hypertensive during recent outpatient evaluations. Increasing shortness of breath over the last week, mostly exertional, but

over the last 2 days been c/o worsening SOB when lies flat Been sleeping progressively more upright for last couple weeks. Awakens

multiple times each night short of breath. Mother notes breathing atnight been getting noisier.

Intermittent non-productive cough over last couple weeks Large amounts of diarrhea Intermittent pruritic rash over abdomen She was evaluated at OSH yesterday and had a CXR which per parents'

report was concerning for an enlarged cardiac silhouette.


3/15

PMH: Possible seasonal allergies. No hospitalizations.>1 yr ago had an I&D of gluteal and axillary abscesses,culture +MRSA. No menarche yet.

FH: Father with HTN. PGF had congestive heartfailure and coronary artery disease.

SH: Lives at home with parents and two youngersisters. Attends 6th grade which she enjoys. Straight Astudent. She participates in school basketball andplays the viola. 1 dog and 1 cat at home.


4/15

Constitutional: + fatigue.

HEENT: no sore throat, no sinus drainage.

CV: No chest pain on exertion, no palpitations. + swelling of the feet and ankles.

Resp: +chest pain with deep inspiration.

GI: Loose stool and increasd flatulence. No nausea, vomiting, GI bleeding, or constipation.

GU: No dysuria or hematuria.

Heme: No easy bruising or bleeding, or tender or palpable lymph nodes.

Musculoskeletal: +back stiffness. No joint pain, swelling or redness, or decreased range ofmotion.

Derm: +stretch marks, shallow and narrow. No ulcerations.

Neuro: No headache, blurred vision, and no new areas of focal weakness or numbness. walkingwell.

Psychiatric: no new mood changes


5/15

v/s: T37.5, HR140, RR30, BP118/50, Sat 95%. Ht 153cm (44%ile), Wt 72kg (99%ile)

GEN: Obese preadolescent female sitting up in bed in mild respiratory distress at rest, cooperative and alert.

HEENT: PERRL, EOMI, TM's clear bilaterally. No nasal discharge. OP and dentition normal. No oral lesions orexudates.

NECK: supple. Palpable L neck mass in lower neck and supraclavicular region. No other cervical adenopathies.

Normal thyroid gland to palpation.

CV: RRR, nl S1S2. No murmur or gallop. Trace pretibial edema bilaterally. Cap refill =2 sec.

RESP: Rapid shallow breathing. Good aeration without adventitious sounds.

ABD: Obese centrally. Semi-firm, but non-tender, slightly distended, without fluid wave. No masses or HSM. +BS.

EXT: No clubbing or cyanosis. No deformities.

NEURO: Cranial nerves 2 to 12 normal. Motor tone normal, strength grossly intact though difficult to assess aspatient in bed and fatigued.

SKIN: Mild diffuse acne to forehead. No hirsutism, no acanthosis nigricans. Pink striae to upper thighs mediallyand posteriorly.

GU: Tanner 3 breast development and pubic hair. No axillary hair.


6/15


7/15

Endo Cushings T2DM

Heme-Onc

Medullary thyroid carcinoma Neuroendocrine

tumor/Carcinoid syndrome Pheochromocytoma Peripheral T-cell lymphoma Paraneoplastic syndrome

ID CAP Pertussis TB Infectious Gastroenteritis

GU UTI/Pyelo

Psych Binge eating disorder

CV CHF/pulmonary edema

Myocarditis

Pericarditis

Endocarditis Pulm

Obesity Hypoventilation(Pickwickian syndr)

OSA Other:

Pregnant


8/15

Labs: TSH, FT4, ThyroidAbs: wnl

AVP: wnl FSH, LH, PRL: wnl GH: 0.08 (nl 0.05-17.3)

IGF-1: wnl

Celiac panel: (-) Vit D: 14 (low) Urine catecholamines & metanephines: wnl Beta hCG: neg

Glc: 88

Imaging: Bone Age = 13.6 yrs, Chron age of 12 yrs. CT neck: 3 X 3.6 cm L supraclavicular mass or conglomeration of nodes

Neck biopsy (needle x1, open x2, repeated d/t regrowth): Grew group F strep and staph epi. Path results indefinitive initially.


9/15

Labs: CBC: WBC 11.9 (67%N, 16%L,8%M, 5%E), Hb 11.3, Hct 35.9, plts 454 CMP: glc 143, ALT 55, AST 38 RFA: (-)

ESR 41 LDH: 830 (370-785), uric acid 4.2 C dif, EHEC, Adeno 40/41: (-) HbA1C: 6.4, insulin and glucagon: wnl CBG: no CO2 retention

U/A: wnl Legionella urine Ag: (-), serum Ab (-)

Micro Stool cx: Yeast predominant, normal enteric flora severely restricted

Imaging: CXR: lingular consolidation


10/15

AFP, BhCG tumor markers: wnl CEA, Calcitonin: wnl Somatostatin: 42 (


11/15

Echo: small-moderate global pericardial effusion, nlsize & fxn

Thyroid u/s: nl

Brain MRI: minimal thickening of pituitary stalk ofunknown significance, nl pituitary & hypothalamus.

Pan CT/PET scan: abnormal radionucleotide activity inlymph nodes in the left side of the neck (despiterecent resection) and mediastinum, most c/wneoplasm, but non-indicative of a primary tumor site.


12/15

Though ACTH wnl it is thought she has a tumor producing atruncated ACTH molecule not detected by our assay.

Open biopsies of L neck were indefinitive, but appeared to be amalignant hematopoietic neoplasm, most consistent with aperipheral T-cell lymphoma

Immunostaining of tumor cells on glass slide was mildly positivefor ACTH granules when compared to control slide.

Despite the lack of a clear diagnosis she was started on chemogiven her progressive clinical worsening (growing pleural effusionand resp distress despite adequate antibiotic coverage)

Effusion improved after initiation of chemo, mediastinal and Lneck mass improving


13/15

Cushings syndr. = elevated cortisol (iatrogenic, adrenal, or ectopic) Cushings dz = pituitary adenoma causing Cushing's syndr.

Sxs: Rapid wt gain (particularly of trunk & face), buffalo hump, moon face

Hyperhidrosis (excessive sweating)

Telangiectasias, thinning of skin, striae Proximal muscle weakness

Hirsutism, acne

Insomnia Various psychological disturbances, ranging from euphoria to psychosis. Depression and

anxiety are also common. Inhibited aromatase -> reduced libido, impotence in men, amenorrhea/oligomenorrhea

and infertility in women due to elevations in androgens and negative feedback of cortisolon the hypothalamus decreasing GnRH release.

Polyuria (and accompanying polydipsia) Persistent HTN (cortisol enhances epinephrine's vasoconstrictive effect) Insulin resistance (especially common in ectopic ACTH production)

Hyperpigmentation (if elevated ACTH) d/t Melanocyte-Stimulating Hormone production as a byproduct of ACTH synthesis from Pro-

opiomelanocortin (POMC)


14/15

Cushings

Dx:

Dexamethasone suppression test vs 24 hr urine cortisol Salivary cortisol newly FDA approved

If abnl

CT adrenals

MRI pituitary Rarely petrosal sinus sampling needed to measure ACTH levels


15/15

Slow growing malignant tumor ~2/3 in midgut (ileum/appendix), ~1/4 in the

respiratory tract, rarely ovary or thymus.

~10% secrete excessive levels of a range ofhormones, most notably serotonin (5-HT),causing: Flushing

Diarrhea Wheezing Abdominal cramping Peripheral edema

rapid massive weight gain 6.3.2013

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