Hyperglycemic Hyperosmolar Syndrome Presenting With Unique Craniofacial Involuntary Movements

PRACTICAL IMPLICATIONS

Hyperglycemic hyperosmolar syndrome should be considered in the differential diagnosis of acute onset facial hyperkinesias. Multiple movement disorders, e.g., hemifacial spasm, blepharospasm, and oromandibular dystonias, may occur in a single patient. The early diagnosis and proper treatment of the metabolic derangements of hyperglycemic hyperosmolar state usually results in complete resolution of the induced hyperkinesias.

Hyperglycemic hyperosmolar state (HHS) can present as focal seizures, epilepsia partialis continua (EPC), hemichorea, hemiballismus, and rarely hemifacial spasm and myoclonus. We present a case of HHS, previously unreported, associated with several craniofacial hyperkinesias, including hemifacial spasm, bilateral periocular twitching, and jaw closure dystonia, producing recurrent tongue biting.

HHS is a serious metabolic derangement that can occur in patients with diabetes mellitus. HHS can present with a spectrum of neurologic manifestations including altered sensorium or coma, focal seizures or EPC, and hyperkinetic movement disorders, most commonly chorea-hemiballismus syndrome,¹ whereas myoclonus, opsoclonus, and hemifacial spasm rarely have been described as a manifestation of HHS.^2–4

Case

A 54-year-old man, with a 25-year history of poorly controlled type 2 diabetes mellitus, presented with 4 days of abnormal movements of the right side of face precipitated by tactile stimulus over his face, upper limbs, and trunk. His physical examination revealed right hemifacial spasm precipitated by auditory and tactile stimulus, opsoclonus, blepharospasm, oromandibular dystonia, perioral tremor, and myoclonic jerks involving the head and neck particularly triggered by neck extension (Video 1). The patient also had features of a chronic distal sensory motor neuropathy. He had been unable to take food for nearly 72 hours because of jaw closure dystonia, and he had developed starvation ketosis.

Video 1

(Pretreatment video) Right hemifacial spasm, blepharospasm, oromandibular dystonia, and myoclonic jerks involving head and neck, triggered by neck extension.Download Supplementary Video 1 ^{(9.1MB, mp4)} via http://dx.doi.org/10.1212/001004_Video_1

Laboratory investigations revealed a blood sugar of 840 mg/dL with HbA1C of 19.4% and calculated serum osmolality of 340 mosmol/L. Arterial blood gases showed a pH of 7.35, HCO₃—18 mmol/L, and pCO₂—30 mm Hg. Urine routine examination showed plenty of pus cells and presence of ketone bodies. Urine osmolality was 270 mosmol/L. Renal function tests revealed a serum creatinine of 2.1 with blood urea of 65 mg/dL and a calculated eGFR of 35 mL/min/1.73 m². Serum sodium level was 135 mmol/L, and serum potassium was 4.7 mmol/L. An MRI of the brain including T1W, T2W, and fluid-attenuated inversion recovery sequences was normal. EEG did not reveal any epileptiform abnormalities. Nerve conduction studies revealed an axonal neuropathy with mild prolongation of distal latency and reduction of conduction velocity. The patient was treated with aggressive fluid resuscitation, continuous insulin infusion, and intravenous antibiotics for the urinary tract infection. Blood sugar values were controlled over 12 hours, resulting in resolution of the abnormal movements, except for mild involuntary jaw closure dystonia (Video 2).

Video 2

(Post-treatment video) Involuntary movements have subsided except for mild jaw closure dystonia.Download Supplementary Video 2 ^{(7.5MB, mp4)} via http://dx.doi.org/10.1212/001004_Video_2

Discussion

HHS can manifest with neurologic signs, including an altered sensorium, focal seizures, EPC, myoclonus, opsoclonus, hemifacial spasm, hemichorea-hemiballismus, or hemiplegia.^1,5 Focal motor abnormalities may be the initial presentation in 6% of the cases of a nonketotic hyperglycemic state.¹ HHS is a rare secondary cause of hemifacial spasm.^1,4,5 A previous case report of hemifacial spasm secondary to HHS was of a young type 1 diabetic,⁴ and another 2 patients described had type 1 diabetes with ketoacidosis and isolated hemifacial spasm.⁵ By contrast, our patient had type 2 diabetes and a constellation of movement disorders. Focal seizures and EPC are more commonly associated with HHS.^2,6 In a series of 17 cases,⁶ 9 patients had encephalopathy, 4 had EPC, 1 had focal seizures, and 3 had hemichorea-hemiballismus syndrome. The symptoms of rhythmic movements could be mistaken for epilepsy, but they are typically refractory to antiepileptic drugs or neuroleptics, instead respond dramatically to insulin therapy with correction of the metabolic abnormality.⁶ Our patient had a normal sensorium and no seizures. Another case report described a 62-year-old man with nonketotic hyperglycemia and upper limb myoclonus.² Our patient had head and neck myoclonuses that were reflexive. The severe jaw closure dystonia caused tongue biting, which severely impaired food and fluid intake. We were unable to find other reports of oromandibular dystonia or blepharospasm because of nonketotic hyperglycemia, as observed in our patient.

MRIs of the brain in HHS patients may be normal or may show T1 hyperintense and T2 hypo/isointense signal changes in the basal ganglia without any diffusion restriction or abnormalities on gradient echo images.⁷ This abnormality may disappear after stabilisation of the hyperglycemia. The MRI of our patient was normal; however, perfusion studies were not conducted.

HHS should be considered as a potential cause of movement disorders in patients with either type 1 or type 2 diabetes mellitus. Early suspicion of HHS should prompt immediate serum tests, and aggressive therapy for the metabolic derangements should lead to a rapid resolution of abnormal movements and avoids costly investigations and possibly in-correct treatment and loss of precious time.

Appendix. Authors

Study Funding

No targeted funding reported.

Disclosure

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