Segmental
overgrowth
| May require debulking surgery | If functional limitations or pain are moderate to severe |
Leg length
discrepancy
| Standard treatment per orthopedist | May require a shoe lift if length discrepancy >2 cm |
Megalencephaly/
Ventriculomegaly
| Standard treatment per neurosurgeon; may incl ventriculoperitoneal shunting or 3rd ventriculostomy | If signs & symptoms of obstructive hydrocephalus or ↑ intracranial pressure Hydrocephalus may be more successfully treated in those w/MCAP via a 3rd ventriculostomy [Author, personal observation].
|
Cerebellar tonsillar
ectopia or Chiari
malformations
| Standard treatment per neurosurgeon; may incl a posterior fossa decompression |
|
|
Epilepsy 3
| Standardized treatment w/ASM by experienced neurologist or epileptologist |
|
| Consideration of hemispherectomy or surgical resection of the epileptic focus 5 | In those w/focal or supportive findings by neuroimaging, EEG, or clinical semiology of the seizure disorder |
|
DD/ID
| See Developmental Delay / Intellectual Disability Management Issues. | |
Psychiatric/
Behavioral
| Standard treatment per psychiatrist &/or developmental pediatrician | See Social/Behavioral Concerns. |
|
Polydactyly
| Consider removal of extra digits. | Per orthopedist |
Foot deformities /
Splayed toes
| Surgical intervention may be considered; per orthopedist | To allow for shoes & improved function |
|
Scoliosis
| Standard treatment per orthopedist | |
Vascular
malformations
| Depending on type of vascular malformations: sclerotherapy, laser therapy, or oral medications (e.g., sirolimus) |
|
Structural heart
defects / Arrhythmia
| Standard treatment per cardiologist | |
Lymphatic
malformations
| Standard treatment per vascular anomalies team | May incl careful surgical debulking or oral medications (See Therapies Under Investigation.) |
|
Lipomas
| Careful surgical debulking of infiltrative masses, typically requiring multidisciplinary mgmt 6 | Paraspinal & intraspinal extension pose significant risk for compression of the cord, thecal sac, & nerve roots. |
Renal anomalies /
Hydronephrosis
| Standard treatment per urologist &/or nephrologist | |
|
Wilms tumor
| Standard treatment per oncologist | |
Coagulopathy or
thrombosis
| Standard treatment per hematologist depending on the coagulation issue; may incl anticoagulant therapy for thrombosis or fresh frozen plasma infusion for coagulopathy | Those w/CLOVES phenotype are at particular risk of developing a postoperative hypercoagulable state → thrombosis. |
|
Pain
| Evaluate for source of pain & treat underlying cause, e.g., vascular malformation, secondary effects of overgrowth (nerve impingement, compression of internal organs), or functional impairments. | |
|
Hypothyroidism
| Standard treatment per endocrinologist | More likely in those w/MCAP or other forms of PROS that incl brain involvement 7 |
|
Hypoglycemia
| Depending on severity, treatment can range from infusion of IV glucose to administration of sugar-containing drinks or snacks to cornstarch therapy. In some instances of persistent hypoglycemia, glucagon injections may be considered.
| Primarily affects neonates, though some persons may develop hypoglycemia later in life. In severe, persistent hypoglycemia, eval of the GH axis & HPA axis is indicated.
|
| If hypoglycemia is due to growth hormone deficiency, consideration of GH therapy | Limited data re efficacy of GH therapy & whether it is contraindicated in this population. |
Growth hormone
deficiency
| Consider a trial of GH therapy. 7 | Undertake careful follow up of linear growth & trajectory of overgrowth. Delay of GH therapy until after age 2 yrs has been suggested, avoiding the major period of brain growth. Further evidence is needed to determine relative risks & benefits of GH therapy in GH-deficient persons w/PROS. 7
|
|
Family/Community
| Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
|
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