Table 3.

Non-endocrine manifestations in cases with MEN2B syndrome

Case	GI	GI—therapy	IGN (method of Dx)a	MSK	MBH	Oral NMs	Oral	Ocular	Other manifestations
1	+	Oral laxatives Enemas CHT SD	+ (rectal biopsy)	+	−	+	+	+	- Short stature - Transient hypogammaglobulinemia with recurrent respiratory infections - ADUS requiring meatotomy
				HL OD			CD FH	ONR Af TCN
2	+	Oral laxatives CHT Surgery	+ (surgical tissue)	?	−	−	+	+	- Short stature - Temporarily delay of growth - Anemia due to iron deficiency - Lactose intolerance
							CD FH	TCN
3	+	Oral laxatives Enemas	+ (rectal biopsy)	+	−	+	+	−	- Short stature - Relapsing conjunctivitis
				HT			CD FH
4	+	Oral laxatives Enemas	–b (rectal biopsy)	+	+	+	+	+	- Café au lait spot cheek
				DMD MW HT HL			CD	ONR
5	+	Oral laxatives Enemas CHT Surgery	+ (rectal biopsy)c	+	+	+	+	+	- Dysfunctional voiding requiring CIC
				DMD HL			CD GH FH	ONR TCN
6	+	Oral laxatives CHT Surgery	+d (surgical tissue)	+	+	+	−	+	- Café au lait spots trunk
				HL				A
7	+	Oral laxatives Enemas	+ (rectal biopsy)e	+	−	+	+	+
				DMD MW HT HL			CD FH	A
8	+	Oral laxatives	+ (autopsy)	+	+	+	+	+	- Temporarily delay of growth - Dysfunctional voiding requiring SCAD - Kyphoscoliosis leading to dyspnea
				MW HT HL OD			GH	ONR TCN

Non-endocrine manifestations diagnosed in cases with MEN2B patients any time during follow-up

+ yes, − no, A alacrima (inability to make tears), ADUS anterior deflected urinary stream, CD central diastema, CHT colon hydrotherapy, CIC clean intermittent catheterization, DMD delayed motor development, Dx diagnosis, FH frenulum hyperplasia, GH gingiva hypertrophy, GI gastrointestinal, HL hyperlaxity, HT hypotonia, IGN intestinal ganglioneuromatosis, MBH marfanoid body habitus, MSK musculoskeletal, MW muscle weakness, NMs neuromas/neurofibromas, OD osseous deformities, ONR ocular neuromas/neurofibromas, SCAD continuous suprapubic catheter, SD manual anal internal sphincter dilatation (twice) and botulinum toxin injection into anal internal sphincter (once), TCN thickened corneal nerves

^aThe method of acquiring intestinal tissue (rectal biopsy, intestinal surgery, autopsy) is specified between the parentheses

^bRectal biopsy showed no signs of Hirschsprung’s disease. The original pathology report did not mention the presence or absence of IGN. This tissue specimen could not be retrieved for re-evaluation

^cAfter recent re-examination of the tissue

^dNo rectal biopsy performed. Intestinal tissue from subtotal colectomy at the age of 21 showed IGN

^eBiopsy after diagnosis of MEN2B

^fUnilateral inability to make tears