Case 1:
A 4 year old girl presented with recurrent seizures since 1 year of age which are generalized tonic clonic convulsions with clenching occurring once in 2-3 months. Mother had appendicitis in first trimester of pregnancy. A milestone in form of speech is delayed. The child is a full term normal delivery with birth weight of 2.2 kg. On examination, the child has microphthalmia, microcornea, low set ears, microcephaly {head circumference = 44 cm}. There was an ejection systolic-murmur in pulmonary area. Other systems are normal.
Question :
What is the possible diagnosis?
This child has presented with recurrent seizures. In addition, the child has dysmorphic features such as microphthalmia, microcornea and microcephaly suggestive of either an intrauterine infection or genetic disorder. The commonest IU infection in this child would be congenital rubella and seizures could be due to brain calcifications, malformations. In this child, urine for rubella was positive suggestive of diagnosis of Congenital rubella. Echocardiography was normal. ECG showed sinus bradycardia.
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Case 2
A 14 months old boy born of third degree consanguineous marriage presents with sudden inability to stand or sit since 15 days. There is no restriction of movement in upper limb. There is no convulsion, bladder or bowel complaints and no trauma. The child has fever since 3 days. His milestones and immunization history is adequate. There is no history of TB contact. On examination, the child has hypertonia in both lower limbs with decreased power and brisk reflexes in both knees. There is bilateral sustained ankle clonus and planter reflex was extensor. Cremasteric and Abdominal reflexes were absent. Upper limb reflexes were present. Pain and touch sensation appears intact. Other systemic examination is normal.
Questions :
Mention 4 possible causes.
What is the most likely diagnosis.
Mention a useful informative test.
Answer
This child has presented with sudden onset paraplegia. One may consider possibilities such as poliomyelitis, trauma, GBS, transverse myelitis and spinal tumor which may have bled suddenly leading to intraspinal edema. Since the paralysis is symmetrical and the child has been immunized upto date, poliomyelitis seems unlikely. Trauma and vertebral facture is also unlikely as no history of trauma is available. Since the paralysis has remained static, GBS also seems unlikely as GBS is usually an ascending polyneuropathy. A sudden onset paraplegia can be a manifestation of transverse myelitis but it usually leads to a band of dermatomal involvement with band like pain at the level of the lesion and complete motor, sensory as well as bladder and bowel involvement below the upper level of involvement. In this child, bladder and bowel involvement cannot be commented upon as the child has still not achieved continence. However, pain and touch sensation are intact thus making a diagnosis of transverse myelitis less likely. Spinal tumors usually have an insidious onset of paraparesis. However, they may be totally asymptomatic and can present as sudden onset paraplegia if there is bleeding inside the tumor. Thus, one would consider a possibility of spinal tumor in this child. An MRI spine in this child was suggestive of right paravertebral soft tissue mass at the level of T1 to T5 spinal vertebrae extending into the spinal canal through T1 and T2 neural foramen with marked extradural compression of spinal cord suggestive of intraspinal tumor
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Case 2
A 14 months old boy born of third degree consanguineous marriage presents with sudden inability to stand or sit since 15 days. There is no restriction of movement in upper limb. There is no convulsion, bladder or bowel complaints and no trauma. The child has fever since 3 days. His milestones and immunization history is adequate. There is no history of TB contact. On examination, the child has hypertonia in both lower limbs with decreased power and brisk reflexes in both knees. There is bilateral sustained ankle clonus and planter reflex was extensor. Cremasteric and Abdominal reflexes were absent. Upper limb reflexes were present. Pain and touch sensation appears intact. Other systemic examination is normal.
Questions :
Mention 4 possible causes.
What is the most likely diagnosis.
Mention a useful informative test.
Answer
This child has presented with sudden onset paraplegia. One may consider possibilities such as poliomyelitis, trauma, GBS, transverse myelitis and spinal tumor which may have bled suddenly leading to intraspinal edema. Since the paralysis is symmetrical and the child has been immunized upto date, poliomyelitis seems unlikely. Trauma and vertebral facture is also unlikely as no history of trauma is available. Since the paralysis has remained static, GBS also seems unlikely as GBS is usually an ascending polyneuropathy. A sudden onset paraplegia can be a manifestation of transverse myelitis but it usually leads to a band of dermatomal involvement with band like pain at the level of the lesion and complete motor, sensory as well as bladder and bowel involvement below the upper level of involvement. In this child, bladder and bowel involvement cannot be commented upon as the child has still not achieved continence. However, pain and touch sensation are intact thus making a diagnosis of transverse myelitis less likely. Spinal tumors usually have an insidious onset of paraparesis. However, they may be totally asymptomatic and can present as sudden onset paraplegia if there is bleeding inside the tumor. Thus, one would consider a possibility of spinal tumor in this child. An MRI spine in this child was suggestive of right paravertebral soft tissue mass at the level of T1 to T5 spinal vertebrae extending into the spinal canal through T1 and T2 neural foramen with marked extradural compression of spinal cord suggestive of intraspinal tumor
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