Table 1 Clinical features of patients with PERM with only positive glycine receptor antibodies
Authors | Age/Sex | Clinical Features | Brain/spinal MRI | CSF analysis | Immunotherapy | Outcome |
|---|---|---|---|---|---|---|
Stern W M [2]. | 40/Male | Dyspnea, ophthalmoplegia, severe limb rigidity, stimulus-sensitive myoclonus, profuse sweating, and episodes of tachycardia. After 7 months, he experienced a relapse | Normal/— | Mildly inflammatory | IVIG, PLEX, oral corticosteroids | At 6 months, the primary symptoms had improved. |
Hutchinson M [6]. | 54/Male | Two weeks of worsening with brief frequent violent jerks, followed by bilateral ptosis, partial horizontal gaze palsies, and rigidity | Normal/normal | Mildly inflammatory | Corticosteroids, PLEX, IVIG, Cyclophosphamide | Mild spinal rigidity, walks 200 m with one stick, and works part time |
Bourke D [7]. | 55/Male | Stimulus-induced hyperekplexia and rigidity in the lower limbs and trunk | Normal/normal | Normal | Methylprednisolone pulse therapy and IV IG | A gradual reduction in the frequency and severity of hyperekplexia |
Bourke D [7]. | 58/Female | Stiffness in the legs and body jolts associated with hypoventilation at times leading to loss of consciousness | Normal/ normal | Normal | Without immunotherapy, except for diazepam and clonazepam | Symptom improvement |
Mas N [8]. | 48/Male | Paresthesia, irritability, dysgeusia, and severe diurnal hypersomnia, followed by progressive rigidity, trismus, leg spasms, facial flushing, and diaphoresis. | Normal/ normal | – | Oral corticosteroids, IVIG | Only leg stiffness was partially improved. |
Mas N [8]. | 33/Female | Diplopia, dysphagia, and gait ataxia, followed by rigidity of lower extremities with painful spasms, involuntary jerks, and contracture of ankles and urinary retention. Relapse of illness 22 months later. | Normal/ normal | Normal | Corticosteroids, IVIG | A progressive complete recovery |
Mas N [8]. | 60/Male | Progressive dysphagia, followed by rigidity of his legs with painful spasms, diplopia, facial numbness, and severe dysautonomia | Normal/— | Normal | – | A persistent vegetative state and ventilator dependent |
Schmidt C [9]. | 21/Male | Generalized pruritus, paroxysmal fear, and disturbance of sleep, followed by progressive gait ataxia, postural instability, and generalized myoclonic jerks | Normal/normal | Normal | Methylprednisolone pulse therapy | Substantial clinical improvement |
Wuerfel E [10]. | 4/Male | Drug-resistant focal epilepsy, temper tantrums, headache, clumsiness, and intermittently impaired speech | Normal/— | Normal | Methylprednisolone pulse therapy. | Expeditious improvement of within 8 weeks. No epileptic seizures |
Kenda J [12]. | 67/Male | Speech and swallowing difficulties, leg weakness, shortness of breath, twitching of his face and limb muscles, and respiratory failure. The disease relapsed 1 year later. | Normal/— | Unremarkable | Methylprednisolone, IVIG, PLEX, immunoadsorption, azathioprine | Improvement of rigidity, hyperekplexia, and ophthalmoparesis over the following months. |
Borellini L. [13] | 60/Female | Low back pain and progressive rigidity of the trunk and lower limbs, followed by pruritus, dysphonia, hyperhydrosis, and urinary retention | Normal/normal | Normal | Corticosteroids PLEX | At the 1-year follow-up, the neurological findings were normal. |
Peeters E [14]. | 37/Male | Muscle jerks, painful spasms, falls, supranuclear upward gaze palsy and slow saccades, dysphagia, constipation, urinary retention, and paresthesia. | Normal/ normal | – | Methylprednisolone pulse therapy, followed by oral therapy; PLEX | Mild hypertonia and slowed upward saccades persisted at discharge. |