Dr Varsha V S, Dr Vinayan KP(Ped neuro)
DrC Jayakumar
AIMS , Kochi
Three month old boy, with history of neonatal encephalopathy presented with prolonged posturing of the body and poor oral intake. Duration of these episode gradually increased in the last 48 hours
Term and preeclampsia of the mother led to emergency LSCS
At birth ba was Floppy and Cyanosed
Ba was started on PPV, since HR <60 with No respiratory efforts. Chest Compressions were given and ba was Intubated. APGAR: 2 at 1, 5 at 5 minutes and 6 at 10mts.
Cord ABG – severe acidosis- Ph – < 6.8 lactate – 9.4. Ionotropes were given and managed according to NICU protocol.
Extubated on day 2 of life and was off all respiratory supports day 8.
During NICU stay ba was noted to have paroxysmal event on day
1, in the form of occasional lip smacking and jerky movements and was initiated on multiple AEDs.
EEG showed burst suppression pattern.
MRI brain- Day 7 – B/L symmetrical hyper intensity Involving VL thalamus, post putamen, cortico-spinal tracts from peritolandic cortex to posterior limb of internal capsule. Moderate diffusion restriction in body and splenium of Corpus callosum.
Ba was discharged with multidisciplinary follow-up.
Developmentally: newborn status.
At current admission: Child was irritable, with stable vitals. Mild pallor+
Auxology is normal. Pupils- normal
Noted to have poor suck and swallow, opisthotonus posturing with extension of neck and limbs with brisk
DTRs. Bulk- normal, Power- Moving all 4 limbs, other system examination normal. In the initial 24hrs of admission ba was noticed to have multiple episodes of dystonia each episode lasting for 2minutes.
Differentials considered:
Status dystonicus as a sequalae of perinatal asphyxia.
Multiple neurometabolic disorders.
Pseudodystonia.
Drug induced acquired dystonia.
Segawa syndrome
Investigations done showed mild elevation of CPK with mild metabolic acidosis in ABG.
RFT, LFT, serum electrolytes, ammonia and sepsis markers were normal.
Adequate hydration was ensured to prevent pre-renal AKI.
MRI brain showed gliosis with encephalomalacic changes seen in bilateral para-sagittal parietal cortex with extension into the perirolandic region.
Generalized cerebral atrophy with diffuse thinning of corpus callosum was also noted suggestive of sequelae to perinatal hypoxic/ ischemic insult.
Bedside EEG recording showed multifocal and generalized epileptiform abnormalities.
He was initiated on clonazepam and other AEDs were titrated.
Child improved significantly over the course of hospital stay. Dose of clonazepam was up-titrated. No overt sedation was noted.
Overall clinical impression is a ba with prior history of perinatal asphyxia with hypoxic ischemic encephalopathy, presenting in status dystonicus.
Plan was for a close follow up of the child, monitor event frequency and consider titration of anti-seizure medications with a repeat EEG in case of clinical worsening. Family was explained in detail about the nature of the child’s condition and the need for the regular follow up.
Description:
Status dystonicus, also known as dystonic storm, is a rare but severe condition in infants and young children, characterized intense and continuous episodes of dystonia—a movement disorder that leads to involuntary muscle contractions causing twisting, repetitive movements, or abnormal postures.
Incidence: In the general population with dystonia, it’s estimated that about 1–2% may develop status dystonicus. There isn’t exact data for infants alone, status dystonicus is generally more common in children and young adults with pre-existing dystonia or related neurological conditions, such as cerebral palsy, neurodegenerative diseases, or metabolic disorders.
Etiology:
1. Genetic Causes
Primary Dystonia: Genetic mutations can lead to primary dystonia, where dystonia is the primary symptom. For example, mutations in genes such as DYT1 (linked to early-onset dystonia) and other dystonia-related genes can predispose a child to severe dystonic episodes.
Metabolic and Neurodegenerative Disorders: Certain inherited metabolic conditions, like mitochondrial disorders or Wilson’s disease, can cause secondary dystonia that escalates into status dystonicus.
2. Acquired Brain Injuries
Cerebral Palsy: Children with cerebral palsy, especially those with basal ganglia involvement, have a higher risk of developing status dystonicus.
Traumatic Brain Injury or Stroke: Brain injuries that damage motor control pathways can lead to dystonia, which, under certain stress conditions, may develop into status dystonicus.
3. Infections and Inflammatory Conditions
Autoimmune Encephalitis: Inflammatory brain conditions, such as autoimmune encephalitis, can trigger severe dystonic episodes.
Systemic Infections or Illnesses: Infections can act as stressors in children with pre-existing dystonia or neurological disorders, potentially precipitating status dystonicus. Fever, dehydration, and metabolic stress from infections may trigger episodes.
4. Medication-Related Causes
Withdrawal of Antidystonic Medications: Abrupt discontinuation of medications that control dystonia, such as benzodiazepines or anticholinergic drugs, can precipitate dystonic storms.
Medication Side Effects: Certain medications, like neuroleptics or antipsychotics, can induce dystonia as a side effect, which in severe cases may progress to status dystonicus.
5. Other Triggers
Physical or Emotional Stress: Stressful events, changes in routine, or other physiological stressors (e.g., dehydration, malnutrition) may trigger dystonic episodes, particularly in children already predisposed to dystonia.
Surgical Interventions or Procedures: In children with underlying dystonia, surgery or invasive procedures can sometimes precipitate status dystonicus due to the stress on the body.
Investigations:
1. Laboratory Tests
Complete Blood Count (CBC): Helps assess for any underlying infection or inflammatory process.
Electrolytes and Blood Chemistry: Important for detecting imbalances in sodium, potassium, calcium, and magnesium, which can worsen dystonia and affect cardiac and muscle function.
Liver and Kidney Function Tests: Assesses organ function, as conditions like rhabdomyolysis can strain the kidneys and certain metabolic disorders may affect the liver.
Lactate and Creatine Kinase (CK) Levels: Elevated lactate can indicate metabolic acidosis, while high CK levels suggest muscle breakdown (rhabdomyolysis), common in status dystonicus.
Arterial Blood Gas (ABG): Checks for respiratory or metabolic acidosis, which may result from prolonged muscle contractions and inadequate ventilation.
Urinalysis: Monitors for myoglobinuria (presence of myoglobin in urine), which may result from rhabdomyolysis and indicate kidney stress.
2. Metabolic and Genetic Testing
Serum Ammonia and Amino Acids: Elevated ammonia or abnormal amino acid profiles may indicate metabolic disorders that could be contributing to dystonia.
Copper and Ceruloplasmin Levels: Important to evaluate if Wilson’s disease is suspected, especially in older children or young adults with progressive dystonia.
Genetic Testing (if indicated): Identifies potential genetic causes of dystonia, such as DYT1 dystonia or other inherited metabolic disorders.
Lysosomal Enzyme Tests and Mitochondrial DNA Analysis: If specific metabolic or neurodegenerative conditions are suspected based on clinical presentation or family history.
3. Neuroimaging
Magnetic Resonance Imaging (MRI) of the Brain: Used to detect structural abnormalities, injury, or lesions in the basal ganglia, thalamus, or other areas related to motor control. MRI can also help rule out acquired causes like trauma, infections, or stroke.
Magnetic Resonance Spectroscopy (MRS): May assist in detecting metabolic abnormalities within the brain.
4. Electroencephalogram (EEG)
Used to assess for any concurrent seizure activity, especially if there is a concern that seizures may be contributing to the abnormal movements. EEG can also help distinguish dystonic movements from seizure activity, which can sometimes be challenging in infants.
5. Medication Review
Comprehensive review of all medications the child is taking or has recently discontinued, as certain medications or abrupt withdrawal can precipitate dystonic episodes.
Complications:
Rhabdomyolysis and acute kidney injury
Respiratory distress and hypoxia
Metabolic acidosis and electrolyte imbalances
Autonomic instability (heart rate, blood pressure)
Hyperthermia and dehydration
Pain, psychological distress, and feeding difficulties
Progression to multi-organ failure if untreated.
