Neuromyelitis Optica early presentation of an adult disorder

Suresh Chelliah1,*, P. Saravanakumar2, A. Santhosham2, P. Meganathan1, D. Nithya1, D. Senguttuvan

1Department of Pediatrics, Kauvery Hospital, Trichy, Tamilnadu

2Department of Emergency and intensive care, Kauvery Hospital, Trichy, Tamilnadu

*Correspondence:  chelliah.suresh@yahoo.in

Abstract

Background: Neuromyelitis optica (NMO) is a severe autoimmune disease of the CNS characterized by recurrent inflammatory events primarily involving the optic nerves and spinal cord. NMO is infrequent in children, but early recognition is important to start adequate treatment.

Case presentation: A 10-years-old girl was admitted with complaints of fever for one day at onset of illness, followed by vomiting for 20 days, 10-20 episodes/day, not blood/bile stained, preceded by nausea and hiccoughs. Analysis of progress and imaging, led to the diagnosis of a disorder uncommon in childhood.

Conclusions: When the common causes are ruled out or not conclusive, not so common disorders should be considered.

Keywords: Neuromyelitis optica, Hiccoughs

Background

Neuromyelitis optica (NMO) is a severe autoimmune disease of the CNS characterized by recurrent inflammatory events primarily involving the optic nerves and spinal cord. NMO is infrequent in children, but early recognition is important to start adequate treatment [1]. We present a child who presented with non-specific symptoms and hidden clues.

Case Presentation

A 10-years-old girl was admitted with complaints of fever for one day at onset of illness, followed by vomiting for 20 days,10-20 episodes/day, not blood/bile stained, preceeded by nausea and hiccoughs. There was no history of headache, abdominal pain, loose stools or altered sensorium. She was treated for UTI one week before admission with IV antibiotics.On examination, she was drowsy, dehydrated with sinus bradycardia and epigastric tenderness. Systemic examination was otherwise normal. Differentials considered were motility disorder/space occupying lesions.

She was given IV fluids, antiemetic and proton pump inhibitors.

Her blood counts, liver transaminase and renal parameters were normal. Serum electrolytes showed low sodium and potassium. CT brain was normal. Medical gastroenterologist was consulted. Upper GI scopy revealed hiatus hernia. She improved with PPI and prokinetics and was relatively symptom free for two days, but for excessive sleepiness and drowsiness. As she was depressed and very anxious bordering on paranoia, Psychiatrist opinion was sought and acute stress disorder was diagnosed. Anti-anxiety drugs were given.

On day 8 of admission, her symptoms reappeared and in addition also had nystagmus, drooling of saliva, absent deep tendon reflex, ataxia and deterioration in sensorium. With these clinical features and progress, Neuromyelitis optica/GBS with pseudobulbar palsy was considered by the intensivist in ICU who was familiar with disease in adults.

She was electively intubated and connected to mechanical ventilation in intensive care unit. MRI brain with whole spine showed focal lesion without contrast enhancement and with significant diffusion restriction in posterior medulla and in cervicomedullary junction – suggestive of NMO.

CSF analysis for aquaporin antibody was positive, oligoclonal band was negative. Cell count, protein and sugar were normal. Pulse dose methylprednisolone was given for five days and as there was no significant improvement, IVIG (2 g/kg) was given. Oral steroids were continued.

In view of the need for prolonged ventilation tracheostomy was done. Swallowing reflex and deep tendon reflex (ankle) reappeared gradually Ophthalmologist was consulted and optic neuritis was ruled out.

In consultation with paediatric neurologist, she was started on Azathioprine and discharged with NG feeds and tracheostomy tube.

She was readmitted after 25 days, with complaints of cough and fever, and was detected to have neutropenia. She improved with antibiotics and antifungals. Oral feeds were attempted were tolerated well. Steroids and immunomodulators were withheld with a plan to restart after two weeks. On review she is near normal neurologically.

Discussion

Although neuromyelitis optica was previously considered a subtype of multiple sclerosis (MS), the identification of autoimmune antibodies (NMO-immunoglobulin G [IgG]) targeted against the aquaporin-4 (AQP4) water channel in the majority of adult patients identified NMO as a different autoimmune disease entity [2].

The high specificity of AQP4-IgG for NMO has allowed the identification of seropositive patients with atypical presentations of the disease, now named NMO spectrum disorders (NMOSD) [3].

The term NMOSD includes clinical and radiologic syndromes associated with AQP4 seropositivity, such as the following: (a). limited forms of NMO, including single or recurrent LETM and recurrent or simultaneous bilateral optic neuritis (ON); (b) the Asian optic-spinal MS phenotype; (c) ON or myelitis associated with systemic autoimmune diseases; and (d) ON or myelitis associated with brain lesions typical of NMO [3].

Although adults are predominantly affected, NMO/NMOSD has been increasingly recognized in children, who demonstrate a spectrum of disease attacks that often involve CNS areas beyond the optic nerves and spinal cord [2]. In major paediatric case series of NMO and NMOSD, a first clinical event of ON occurred in 50-75% of patients and transverse myelitis in 30-50%, either alone or in combination. A more diffuse involvement of the CNS, including an ADEM-like phenotype, can be observed in approximately 10% of paediatric cases, resulting in a challenging diagnostic situation [1].

Symptoms of brainstem involvement such as prolonged vomiting unresponsive to antiemetics, with or without hiccups, and cranial nerve dysfunction, are frequently described [4].

Diagnostic criteria for NMODS

(A). NMOSD with AQP4-IgG

  • Core clinical characteristic
  • Positive AQP4-IgG testing using best available method
  • Exclusion of alternative diagnoses.

(B). NMOSD without AQP4-IgG or with unknown AQP4-IgG status

(1) $2 core clinical characteristics occurring as a result of $1 clinical attacks and meeting all of the following:

  • At least 1 clinical characteristic: Must be optic neuritis, LETM, or area postrema syndrome
  • Dissemination in space ($2 different core clinical characteristics)
  • Fulfilment of additional MRI requirements.

(2). Negative tests for AQP4-IgG using best available or testing unavailable.

(3). Exclusion of alternative diagnoses.

(C). Core clinical characteristics

  • Optic neuritis
  • Acute myelitis
  • Area postrema syndrome
  • Acute brain stem syndrome
  • Symptomatic narcolepsy or acute diencephalic syndrome with typical diencephalic MRI lesions
  • Symptomatic cerebral syndrome with typical brain lesions.

(D). Additional MRI requirements

(1). Acute optic neuritis

  • Brain MRI normal or showing nonspecific white matter lesions
  • Optic nerve MRI with T2-hyperintense or T1-weighted gadolinium-enhancing lesion extending over .1/2 optic nerve length or involving optic chiasm.

(2). Acute myelitis Requires intramedullary MRI lesion extending over $3 contiguous segments (LETM) or 3 contiguous segments of spinal cord atrophy in patients with history compatible with acute myelitis.

(3). Area postrema syndrome requires associated dorsal medulla/area postrema lesions.

(4). Acute brainstem syndrome Requires associated peri ependymal brainstem lesions Abbreviations: AQP4 5 aquaporin-4; IgG 5 immunoglobulin G; LETM 5 longitudinally extensive transverse myelitis [5].

Treatment of NMOSD includes the management of acute attacks, prevention of clinical exacerbations, monitoring of treatment-associated adverse events, and decisions regarding switching therapy due to lack of tolerability or treatment failure [6].

Prognosis is guarded as exacerbations are common.

Conclusions

When common causes of a symptom complex are ruled out or when treatment does not give expected relief, uncommon causes of the pattern of presentation needs to be considered. Early detection of NMOSD is essential for initiating treatment and prognostication.

Acknowledgements

All the authors were involved in the diagnosis and management of the child. Suresh Chelliah drafted the manuscript and will act as guarantor for the same.

Competing interests

Authors state no competing interests.

References

  • Tenembaum S, Chitnis T, Nakashima I et al. Neuromyelitis optica spectrum disorders in children and adolescents. Neurology 2016;87:S59-66.
  • McKeon A, Lennon VA, Lotze T. CNS aquaporin-4 autoimmunity in children. Neurology 2008;71:93-100.
  • Wingerchuk DM, Lennon VA, Lucchinetti CF. The spectrum of neuromyelitis optica. Lancet Neurol. 2007;6: 805-15.
  • Kremer L, Mealy M, Jacob A. Brainstem manifestations in neuromyelitis optica: a multicenter study of 258 patients. Mult Scler. 2014;20:843-7.
  • Wingerchuk D, Banwell B, Bennett JL. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology 2015;85:177-89.
  • Trebst C, Jarius S, Berthele A. Update on the diagnosis and treatment of neuromyelitis optica: recommendations of the neuromyelitis optica study group (NEMOS). J Neurol. 2014;261:1-16.

Journals

Find Doctor
Book Appointment