(BMJ)—A 7-yo girl presented w/ neck stiffness and trismus while being treated for a presumed throat infection. Exam: fixed torticollis w/ restricted neck movement; tonsillar erythema; lymphadenopathy of cervical nodes. CT confirmed dx. What is it?
Idiopathic spasmodic torticollis
Grisel syndrome
Retropharyngeal abscess
Acute dystonic reaction
Juvenile-onset Huntington disease
You are correct. CT revealed subluxation of vertebrae C1/C2, and bilateral retropharyngeal, deep cervical, and posterior triangle lymphadenopathy w/o abscess, confirming Grisel syndrome, a nontraumatic subluxation of the atlanto-axial joint. Grisel syndrome may be due to inflammation of adjacent tissue, which relaxes the transverse ligament of the atlanto-axial joint. Progressive throat and neck pain and/or stiffness can be followed by neurological sx, or, in extreme cases, quadriplegia and death from respiratory depression. This pt was treated initially w/ a soft collar, analgesia, and diazepam, w/o improvement. Manipulation under anesthesia was performed by the neurosurgical team. Post-op neck CT showed normal atlanto-axial distance, w/ normal alignment of the cervical spine. She went on to make a full recovery.

Archives of Disease in Childhood 2019;104:610.
(BMJ)—A 58-yo male presented w/ tongue pain and indentations plus a 6-mo hx of progressive dyspnea on exertion. PMHx: carpal tunnel release 2y prior. FHx: negative for cardiac infiltrative dz. Nonsmoker. Exam: scalloping at lateral edges of tongue; bilateral periorbital ecchymosis; mild bibasilar rales; pitting lower-extremity edema; jugular venous distention while sitting upright. ECG: low voltage. Echo: ventricular hypertrophy. What is the dx?
Hurler syndrome
Sarcoidosis
Fabry dz
Tuberculosis
Light-chain cardiac amyloidosis
You are correct. Tongue bx confirmed amyloid light-chain (AL) amyloidosis, and bone marrow bx demonstrated 95% plasma cell myeloma w/ concomitant amyloidosis. About 10% of pts w/ AL cardiac amyloidosis have macroglossia, which could present as apparent tongue enlargement or subtle tooth indentation on the lateral tongue. Macroglossia is considered to be a hallmark of AL amyloidosis and is rarely observed in other subtypes. Periorbital bruising is also common in AL amyloidosis, and when present w/ HF, is pathognomonic for AL amyloidosis. Bone marrow bx is critical in suspected amyloidosis to r/o associated multiple myeloma. The pt was treated w/ chemo, autologous stem cell transplant, and supportive tx for HF. One yr later, his HF sx resolved and he was back to his usual activities.

BMJ Case Reports 2018;11:e225923
(BMJ)—A 15-yo female w/ hx of nephrotic syndrome treated w/ high-dose prednisolone presented w/ a 2-day hx of a painful rash around her mouth. She also had painful lesions in her mouth that prevented solid food intake. Exam: body temperature 38°C; lesions on lips and perioral skin; ulcers on buccal mucosa. What is the dx?
Hand-foot-and-mouth disease
Stevens-Johnson syndrome
Herpes simplex virus gingivostomatitis
Behcet syndrome
Bullous impetigo
You are correct. PCR from buccal and oral swabs was positive for HSV 1. HSV gingivostomatitis is more likely to present as extensive localized dz (as in this pt), or as disseminated HSV dz w/ hepatitis, encephalitis, and/or a sepsis-like presentation. Dx is confirmed by isolation of HSV, either from immunofluorescence or via HSV DNA PCR, obtained by swabbing denuded skin lesions. This pt was treated w/ IV acyclovir; fever resolved in 3 days and vesicles resolved after 10 days. She was weaned to a lower dose of prednisolone and later started a steroid-sparing agent for her nephrotic syndrome.

BMJ 2019;366:l5014
(BMJ)—A 9-yo boy presented w/ sudden-onset, painful swelling around the eyes. No trauma hx or meds. Exam: bilateral, periorbital, purplish red swelling; red tender lesions up to 4 cm in diameter on lower legs. Tests: throat swab/CXR both negative. Labs: elevated CRP. What is the dx?
Allergic reaction to insect bites
Nodular vasculitis
Idiopathic erythema nodosum
Periorbital cellulitis
Henoch-Schönlein purpura
You are correct. Bx of eyelid and leg lesions revealed septal panniculitis, confirming the dx of erythema nodosum. Although 50% of cases are idiopathic, erythema nodosum may also be assoc w/ strep infection, TB, meds, IBD, sarcoidosis, rheumatological dz, malignancy, and pregnancy. Lesions are mainly localized to the lower legs but can occur anywhere, including the eyelids. This pt’s lesions resolved spontaneously w/in 2wk.

BMJ 2019;366:l4899