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Clinical case 4

1.Name(Required.)
2.Email (use your work email)(Required.)
INSTRUCTIONS.  
Read Case 4: A 2-year-old boy with hypotonia, speech delay and poor sleep.

Pregnancy, birth, and delivery histories were unremarkable. His parents reported that he slept well during infancy, often having to be awakened to feed and was a "messy eater" with trouble sucking. At one year of age, his motor development was delayed, but his social skills appeared normal, and he was saying three single words. He then stopped progressing. His sleep became erratic, often awakening from 3-5 am daily, which was stressful for the family. At 2 years old, he was still not walking and was seen by a neurologist.
On examination at 2 years, his head circumference was 49.5 cm (75th percentile). Mild dysmorphic features including a flat occiput and flat midface were noted. Speech was delayed and he had a coarse voice. Eye movements were normal. He had oral motor delays and truncal hypotonia. He had many stereotypies such as licking his finger when turning the page of a book, a self-hug when he was excited and toe walking. Tremor was noted with fine motor tasks.
A. Get started as you did before.
D. Resuming from where you left off
The software enables you to save the patient data to be used later by you or by a colleague. Choose from 2 formats:

1. Computable Patient Summary Text String:
  • Save. Go to Report/Computable Patient Summary only and copy the text string to your computer or email it to yourself. (Note that SimulConsult’s EMR-integrated version does this automatically.).
  • Load. Copy the string, go to Load on the black navigation bar, and paste it into the box under "computable patient summary text string". Click the Load button.
2. PDF Patient Summary:
  • Save. Go to Report/Patient Summary PDF file and save the PDF.
  • Load. Import the PDF to Load/PDF file from the black navigation bar.
3.Choose diagnoses. Record your impression of the differential diagnosis (using or ignoring the software results as you deem appropriate) by ranking at least 1 and up to 3 diagnoses from the list provided. You get the most credit for having the correct diagnosis as rank #1, but you also get some credit for having it in other positions.  (One selection allowed per column)(Required.)
Rank 1
Rank 2
Rank 3
Angelman syndrome
Cerebral creatine deficiency syndrome
CHARGE syndrome
Dubowitz spinal muscular atrophy, infantile chronic form
Familial developmental dysphasia
Fetal alcohol syndrome
GLUT1 deficiency syndrome
Hennekam lymphangiectasia-lymphedema syndrome
HLD1: Pelizaeus-Merzbacher disease, classic
HLD5: hypomyelination and congenital cataracts
HLD6: hypomyelinating leukodystrophy, TUBB4A -related
L2HGA: L-2-hydroxyglutaric aciduria
Lowe oculocerebrorenal syndrome
Metachromatic leukodystrophy
Mucolipidosis IV
Neuronal ceroid lipofuscinosis
Polymicrogyria, bilateral perisylvian, X-linked
Prader-Willi syndrome
Robinow-Sorauf syndrome
Short sleeper, BHLHE41-related
Smith-Magenis syndrome
Spastic ataxia with hypomyelinating leukodystrophy
Trisomy 21 (Down syndrome)
4.Go to the Share icon (the square with the in-out arrow) on the SimulConsult black navigation bar. Select and copy/paste the Computable Patient Summary text string .(Required.)
5.Any comments?