While Dillion's main diagnosis is Hydranencephaly complicated by Hydrocephalus and a metabolic disorder 3- Methylglutaconic Aciduria
Dillion also has many underlying conditions. Such as Cortical vision impairment, a seizure disorder, Reactive airway disease, and Bradycardia.
What is Hydranencephaly?
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid.
When Dillion was born doctors told us that Dillion would never survive until his first birthday
They also told us that Dillion would be blind, deaf, and never recognize his own family....
Boy were they were WRONG!!!!
You can learn more about Hydranencephaly by visiting the NINDS website or by visiting the Rays Of Sunshine website and reading other children's stories
Hydranencephaly is a terminal disorder and life expectancy is unknown.
What is Hydrocephalus?
The term hydrocephalus is derived from the Greek words "hydro" meaning water and "cephalus" meaning head. As its name implies, it is a condition in which the primary characteristic is excessive accumulation of fluid in the brain. Although hydrocephalus was once known as "water on the brain," the "water" is actually cerebrospinal fluid (CSF)
Dillion has had 4 surgeries for his shunt and has had two different shunts placed. The first one being a VP shunt and the second being a subdural shunt.
Dillion's shunt is currently not needed as it had performed his job. It is however still in place at this time.
You can learn more about Hydrocephalus by visiting the NINDS Website
What is 3-Methylglutaconic Aciduria?
* Since all the information regarding 3-Methylgluctaconic Aciduria is so confusing, I have decided to copy some information from letters written by Dillion's child development specialist and metabolic doctor*
3-Methylglutaconic Aciduria Type IV
written by Dr. James Coldwell Child Development Specialist
Type IV is often referred to as nonspecific 3-Methylglutaconic aciduria is clinically heterogenous and often characterized by delayed psychomotor development and a worsening spasticity. The magnetic resonance imaging reveals cortical and cerebellar atrophy, cortical dysgenesis, and focal white matter alterations. It is inherited in an autosomal recessive manner.
Organic Acidemias
Written by Dr. Susan Palmer MD Phd Associate professor Consultant in Genetics and Metabolic disorders at The University of Oklahoma
Diagnosis: 3-Methylglutaconic Aciduria, unclear type
(a group of rare genetic inborn errors of metabolism (Organic Acidemia group))
GUIDELINES FOR MANAGEMENT OF Organic Acidemias -
Failure to treat RAPIDLY may have serious, even fatal consequences
-Acute "metabolic crisis" - rapid onset, all children at risk
-Triggers: even minor infection, mild dehydration, mild decrease caloric intake, FASTING, other "minor" medical stressors may rapidly trigger life-threatening crisis.
-Rapid treatment can minimize complications
-This patient also has seizures, congenital CNS malformation (likely Hydranencephaly).
- Treatments are benign; most important is constant supply of calories and fluid
ACUTE ILLNESS and EMERGENCY MANAGEMENT
early intervention to prevent metabolic Crisis
1)Frequent inake of high carbohydrate calories, copious fluids is critical If tolerating feedings poorly, vomiting, or diarrhea present, must have IV treatment, even for minor episodes. May become rapidly acidotic, hypoglycemic or dehydrated. ORAL/G-Tube RE-HYDRATION is NOT ADEQUATE.
2)Metabolic crisis: signs- lethargy or worsening encephalopathy/seizures, feeding intolerance, dehydration, and/or respiratory distress. See triggers above. Without rapid treatment, within hours can progress, coma, "metabolic stroke", organ damage or failure, sometime death. Cardiomyopathy and/or arrythmia in some.
3)LABS: for ill symptoms/poor feeding/dehydration, always ASAP get CMP (check low bicarb, high AST/ALT), ketones (blood or urine dipstick) and fingerstick glucose via glucometer. Neutropenia possible. Other testing is suggested by specific presentation.
4)IV management: For poor feeding intolerance (if continuous drip feeds are not tolerated) or even mild dehydration, hydrate vigorously with IV bolus(es) Thereafter run at 1 1/2 maintenance IVF rate (if tolerated) with D10, include appropriate lytes, correct remaining acidosis. This supplies critical calories to minimize deterioration. If NPO or poor oral intake > 24 hours, contact us for reduced hyperalimentation/NG guidelines to prevent worsening of crisis. Replace lost IV access quickly to avoid hypoglcemia.
5)Carnitine or prescribed megavitamins: if prescribed, give their usual oral dose; if not tolerated give IV (carnitine at 10 to 25mg/Kg/day divided q 6 hr.).
MANAGEMENT for SURGERY, ANESTHESIA, PRODECURES, DENTAL WORK, and making NPO
1)Patient MUST be completely well with no appetite decrease or viral symptoms; otherwie reschedule.
2) If total NPO period exceeds more than a few hours (including procedure, post procedure up to full feeds), MUST have IVF (glucose requirements in part 4 page 1), usually starting the night before. IVF must continue until full oral diet tolerated.
3)"Same-day" procedure without hospitalization can only be considered if
A. scheduled so patient can take AM meal just before NPO period (must be brief)
B. IVF with glucose started immediately at NPO start until full oral diet tolerated.
4)RISKS: if well, small but increased risk of metabolic crisis, Rarely increased risk of cardiac dysfunction, other. Some increased anesthesia/surgery risks overall.
5)Hypoglycemia and acidosis: may be more rapid without food in gut; replace IVs quickly.
6)Post-op monitoring- monitored bed post-op until wide awake and feeding well.
ROUTINE MANAGEMENT
1)No fasting or skipped meals; no longer than 8 hours overnight. Use continuous drip feeds via G-tube if not tolerating bolus feeds.
2) Depending upon specific case, some patients may be oral cartintine (25-100 mg/kg/d divide BID to QID) or specific megavitamin therapy.
3) FOR ANY CONCERNING SIGNS (see page 1) SEE ASAP OR SEND TO ER WITH PAGE 1 INSTRUCTIONS
