Table 2 Diagnostic and clinical profile of pediatric patients with paroxysmal sympathetic hyperactivity
ID | History of brain insult | Type of brain insult | Primary diagnosis | Other comorbidities | First impression (Misdiagnosis) | MRI brain findings | EEG Findings | ECHO |
|---|---|---|---|---|---|---|---|---|
1 | Yes | Traumatic Brain Injury | Traumatic brain injury | SIADH, Pneumothorax, GERD | Sepsis | hemorrhage & herniation | Not done | Not done |
2 | Yes | HIE | HIE due to perinatal asphyxia | Dysmorphism and Hypotonia, GERD | Sepsis | Ischemic changes | Slow background | Normal |
3 | Yes | Viral Encephalitis | Lymphoma | Lymphoma, GERD | Sepsis | volume loss | Slow background | Structural |
4 | Yes | HIE | Cardiac arrest secondary to anaphylaxis | NR | Sepsis | hemorrhage & ischemic changes (Extensive encephalomalacia, Necrosis of thalami, subdural collections) | slow background with epileptiform discharges | Not done |
5 | Yes | Autoimmune encephalitis | Anti-NMDA encephalitis | GERD | Sepsis and drug withdrawal symptoms. | volume loss | Seizure | Structural |
6 | Yes | HIE | HIE secondary to anoxic brain injury | Humeral fracture, GERD | Sepsis | profound HIE | Not done | Normal |
7 | No | None | Unknown autoimmune disease | GERD | Sepsis | volume loss | Slow background | Normal |
8 | No | None | Allen-Herndon syndrome | Central hypothyroidism, GERD | Sepsis | Demyelination | Not done | Normal |
9 | No | None | Neurodegenerative disease with no identified etiology | Hypotonia, scoliosis, GERD | Others (Pneumonia) | volume loss | Slow background | Normal |
10 | Yes | Traumatic Brain Injury | Traumatic brain injury | Scoliosis | Sepsis | Diffuse axonal injury | Slow background | Structural |
11 | Yes | HIE | HIE due to perinatal asphyxia | GERD | Sepsis | profound HIE | Slow background | Normal |
12 | No | None | HIE secondary to cardiac arrest | Truncus arteriosus, GERD | Sepsis | Ischemic changes | Slow background | Valvular |
13 | Yes | HIE | HIE due to near drowning | GERD | Dystonia | Ischemic changes | slow background with epileptiform discharges | Normal |
14 | No | None | Developmental regression since 4 months with no primary cause | GERD | Others (Fracture) | volume loss and demylination | slow background with epileptiform discharges | Normal |
15 | No | None | Neuronal ceroid lipofuscinoses type 7 | GERD | Sepsis | volume loss | Slow background | Not done |
16 | No | None | Wilson’s disease | Dystonia and choreoathetosis | Dystonia | Diffuse axonal injury | Not done | Normal |
17 | Yes | post-meningitis hydrocephalus | meningitis | Cholistaisis, hypoglycemia, developmental dysplasia of the hip, hepatomegaly, osteopenia, hiatal hernia, thrombocytopenia, and vesicoureteral reflux, GERD | Sepsis and ventriculoperitoneal shunt malfunction | Congenital anomaly | slow background with epileptiform discharges | Structural |
18 | No | None | No clear diagnosis | Sulphosystinurea, scoliosis, restricted lung disease, and microcephaly, GERD | Hospital-acquired pneumonia and sepsis | volume loss | Slow background | Normal |
19 | Yes | HIE | No clear diagnosis but had HIE &other comorbidities. | Cleft palate, cardiac arrest, developmental dysplasia of the hip, swallowing dysfunction, and spina Bifida occulta, GERD. | Sepsis and central hyperthermia | profound HIE | slow background with epileptiform discharges | Structural |
20 | No | None | No diagnosis of genetic workup negative | Hypotonia, DVT, Chronic lung disease, GERD | Sepsis | Demyelination | Slow background | Normal |
21 | Yes | HIE | HIE near drowning | GERD | Sepsis and drug withdrawal symptoms. | profound HIE | slow background with epileptiform discharges | Not done |
22 | Yes | Traumatic Brain Injury | Traumatic brain injury | Stable Hydrocephalus, GERD | Sepsis, seizure, and pheochromocytoma. | Ischemic changes | slow background with epileptiform discharges | Normal |
23 | No | None | Vanishing white matter disease (Leukodystrophy) | Leukodystrophy and constipation hepatomegaly, GERD | Status dystonic and sepsis | Demyelination | Slow background | Normal |
24 | No | None | Chromosome 11 duplication syndrome | Holoprosencephaly, laryngomalacia, recurrent UTI (Extended-spectrum beta-lactamase Escherichia coli), recurrent aspiration pneumonia, hip dislocation, and central diabetes insipidus, GERD | Sepsis and central hyperthermia | Congenital anomaly | Slow background | Structural |
25 | Yes | Traumatic Brain Injury | Traumatic brain injury | On ventriculoperitoneal shunt, sialorrhea, and recurrent aspiration pneumonia, GERD | Sepsis | Ischemic changes | slow background with epileptiform discharges | Not done |
26 | Yes | Bacterial meningitis | bacterial meningitis Arnold Chiari malformation | Arnold Chiari malformation type two with myelomeningocele, congenital hydrocephalus on ventriculoperitoneal shunt, failure to thrive, right femur fracture, developmental dysplasia of the hip, neurogenic bladder, and vesicoureteral reflux, GERD | Sepsis and central hyperthermia | Congenital anomaly | Not done | Normal |
27 | Yes | HIE | HIE due to poststrangulation | Acute kidney injury, pulmonary embolism, GERD, and pneumothorax | Drug withdrawal symptoms. | profound HIE | Not done | Not done |
28 | No | None | AR early infantile epileptic encephalopathy type76 | GERD, AR early infantile epileptic encephalopathy type76 and dystonia microcephaly | Sepsis | Demyelination | Seizure | Functional |
29 | No | None | Anti-NMDA encephalitis | Elevated liver transaminases, GERD | Sepsis and drug withdrawal symptoms. | volume loss | slow background with epileptiform discharges | Normal |
30 | No | None | Panhypopituitarism | Panhypopituitarism, GERD | Sepsis | volume loss | slow background with epileptiform discharges | Structural |
31 | Yes | HIE | HIE due to perinatal asphyxia | GERD | Sepsis | Ischemic changes | slow background with epileptiform discharges | Not done |
32 | No | None | Immunodeficiency | Immunodeficiency, GERD | Sepsis | demylination (hypomyelination) | Normal | Structural |
33 | Yes | HIE | HIE due to near drowning | On tracheostomy, GERD | Drug withdrawal symptoms. | profound HIE | Seizure | Normal |
34 | No | None | Fever of unknown origin with negative extensive workup & negative trio WGS. | GERD, Hypotonia, difficult airway on home oxygen, and dysmorphic features | Septic shock due to pneumonia, fever of unknown origin, and periodic fever syndrome. | volume loss and demylination | slow background with epileptiform discharges | Structural |
35 | No | None | Leukodystrophy with ACER3 gene mutation. | Leukodystrophy, bronchial asthma, GERD, and neurogenic bladder with recurrent UTI | Sepsis | Demyelination | Slow background | Normal |
36 | Yes | Autoimmune encephalitis | Febrile infection-related epilepsy syndrome (FIRES) / New-onset refractory status epilepticus (NORES) | Constipation, GERD | Drug withdrawal symptoms. | autoimmune enchephalitis | Seizure | Not done |
37 | Yes | Traumatic Brain Injury | Traumatic brain injury | Multiple fractures, GERD, and liver laceration | Drug withdrawal symptoms. | hemorrhage and diffuse axonal injury | Normal | Not done |
38 | Yes | HIE | HIE post-cardiac arrest (near drowning) | GERD, Right femur fracture (osteopenia post physical therapy session) | PSH | volume loss | slow background with epileptiform discharges | Not done |
39 | Yes | HIE | HIE post-cardiac arrest (near drowning) | GERD, Constipation | PSH | profound HIE | Slow background | Not done |
40 | No | None | Dilated cardiomyopathy and extensive venous thrombosis. | Dilated Cardiomyopathy and Fever of unknown origin | Complex regional pain syndrome | Ischemic changes | Not done | Functional |
41 | No | None | Mitochondrial disease | GERD, Mitochondrial disease and osteopenia | Dystonia and fracture. | Congenital anomaly | Slow background | Normal |
42 | Yes | HIE | HIE | GERD, Dysmorphism, hypotonia and dysplastic pulmonary valve | Dystonia and respiratory infection | profound HIE | Normal | Valvular |