Day 275

Someone turned 9 months old today!

UTV ride.

We also got the complete neurological write up from Children's today. Read it if interested:

I had the pleasure of seeing Isabelle Bentley in the Stroke and Cerebrovascular Disorders Program in conjunction with my attending physician, Michael Rivkin. Isabelle was referred for initial consultation regarding her chief complaint of abnormal MRI. History is provided by her mother and review of the medical record. Although you are familiar with the patient's history, please allow me to relate pertinent portions of it for our records. 

The patient is an 8 month-old girl with history of Trisomy 21, AV canal s/p repair in March, and hypothyroidism presenting for evaluation of an abnormal MRI. Isabelle was born at 36.2 weeks.  Prenatal imaging notable for AV canal and ventriculomegaly.  Diagnosis of Trisomy 21 made prenatally.  Isabelle had a head US shortly after birth that was notable for grade II IVH that was stable on 2 additional repeat HUS done 2 months apart.  She underwent repair of her AV canal in March.  Prior to her surgery, she had an MRI notable for mild dilation of the L>R lateral ventricles and the 3rd ventricle.  It was also noted that she had mild thinning of the corpus callosum. She was seen by the Neurology Consult service and her imaging findings were felt to be consistent with ex vacuo dilation.  The results of Isabelle's imaging were reviewed with the family.  It was recommended that she have a repeat MRI at 1 year of age and serial HUS in the interim.  She had a follow-up head ultrasound in May that was read as: 1) minimal interval increase in size of lateral ventricles with echogenic material in the lateral ventricles bilaterally that is stable to less conspicuous compared to priors.    

She has done well in the interim.  She was seen by Cardiology earlier today and felt to be doing well from a cardiac perspective.  In terms of her development, she is rolling in both directions but predominantly rolls via her left side.  She is moving all of her extremities spontaneously and symmetrically.  She cannot sit unsupported.  She will briefly place her feet on the ground when held vertically.  She has good head control and enjoy tummy time.  She reaches for toys and grabs them but does not pass them from hand to hand.  She smiles and laughs.  She tracks.  She responds to noises.  She makes vowel sounds but no consonant sounds.  She eats purees without difficulty.  She does not have any issues with vomiting.  She sleeps well at night.  She is followed by EI.  She does PT 1x/week and speech therapy 1x/month.  She will soon have a developmental specialist following her 1x/week as well.  

Review of Systems:  The parent filled out our comprehensive, 14 system review.  This review of systems has been scanned into our system for later reference.  This review of systems was positive for constipation. Otherwise, no constitutional, HEENT, cardiovascular, respiratory, GI, GU, rheumatologic, hematologic, immunologic, integumentary, lymphatic, endocrine, neurologic, or psychiatric symptoms are reported. 

Past Medical History: Trisomy 21 AV canal s/p repair Hypothroidism GERD, resolved Grade II IVH Late prematurity Blocked tear duct Global developmental delay 

Birth History: Born at 36.2.  Pregnacy complicated by prenatal diagnosis of Trisomy 21 with MRI showing AV canal and ventriculomegaly. Isabelle spent 3 days in the NICU for observation due to prenatal diagnoses of Trisomy 21, AV canal and ventriculomegaly. 

Developmental History: Please see HPI for details of development. 

Family History: Isabelle's brother is a former 27 weeker. There is a paternal cousin with autism.  Mom has hypothyroidism.  Otherwise there is no family history of seizures, unexplained mobility impairment, stroke or MI before age 50, DVT, PE, recurrent miscarriage, or other clotting disorders. 

Medications: Synthroid, lactulose prn, OTC gas medicine prn, erythromycin for blocked tear ducts

Allergies: None

 Social History: Isabelle lives with her mother, father and older brother. There is no exposure to tobacco smoke. The parents were given the opportunity to speak about any religious or spiritual beliefs, cultural traditions or practices, family support, health insurance, or financial concerns. They did not wish to discuss these matters. 

Physical Exam: VS: Weight 5.70kg, Height 60.5cm, HC 44.5cm Head and face: Facial stigmata of Trisomy 21 including epicanthal folds bilaterally, a flat nasal bridge, a smooth philtrum and thin upper lip. Eyes: No conjunctival injection. Optic disc margins were sharp with no papilledema. Ears, nose, mouth and throat: Lips and gums were without lesions. Neck: Appeared normal, no meningismus. Respiratory:  Clear to auscultation bilaterally with normal respiratory effort. Cardiovascular: Normal rate and regular rhythm.  Midline surgical scar. Gastrointestinal: Soft, non-tender. Musculoskeletal: No deformities of the extremities. Skin: No obvious rash, induration, or neurocutaneous stigmata. 

Neurological exam: Mental Status: Alert and active.  Regards, tracks, smiles.  No cooing or babbling.  Cranial Nerves: The pupils are equal, round and reactive. Visual fields appeared intact to confrontation. Extra-ocular movements appeared intact with conjugate gaze and good tracking of objects.  Facial strength normal and symmetric. Moved head through full range of motion. Tongue protruded in the midline with no evidence of atrophy or fasciculation. Motor: Decreased tone both axially and appendicularly. Good head control with pull to sit and when placed prone but greater degree of slipthrough on vertical suspension than expected for age.  Move all extremities spontaneously and symmetrically.  Good upper extremity strength as evidenced by maintenance of elbow flexion when pulled to sit.  Does not place feet on table when held vertically.  Does not reach for objects today. Reflexes: Deep tendon reflexes were 1+ and symmetric in the upper and lower extremities, and toes were downgoing bilaterally. There was no clonus. Sensory: Intact to light touch. Coordination: Did not reach for objects today.  

Diagnostic Studies: The patient's imaging was reviewed with attendings from Neurology, Hematology, and Neuroradiology as part of a multidiscplinary Cerebrovascular Disorders and Stroke Program radiology conference. Patient's MRI showed ventricular enlargement L>R consistent in appearance with ex vacuo dilation of the lateral ventricles.  No evidence of hydrocephalus.  

Assessment and Plan: Isabelle is an 8 month old girl who we have evaluated today for chief complaint of abnormal MRI. Patient's examination is as expected given her underlying Trisomy 21. She has global developemental delay but is otherwise doing well.  Patient's imaging is consistent with ex vacuo dilation of the lateral ventricles in the setting of Trisomy 21.  High resolution studies of patients (children and adults) with Trisomy 21 have revealed multifocal reduction in lobar volumes with evidence of faster enlargement of ventricles over time than is found in controls and this is likely contributing to patient's imaging findings.  There may also be a contribution of her prematurity.  Patient's imaging does not appear consistent with hydrocephalus.  The imaging findings and their significance were reviewed with patient's mother.  

We recommend the following at this time: A HUS at 12 months

We will discuss follow-up with our specialist in Trisomy 21. We have asked her mother to contact us with any new symptoms or worsening of the issues which we discussed today. 

Thank you for referring your patient for consultation. If you have questions or new information relevant to this patient's care, please do not hesitate to contact me or my attending physician.  

Sincerely,

  

Dana Harrar, MD, PhD Cerebrovascular Disorders and Stroke Fellow 

Patient seen, case reviewed, and plan discussed with Michael Rivkin, MD, Cerebrovascular Disorders and Stroke Attending. 

I have reviewed the history and examined Isabelle  in full.  I have reviewed the text of the note above and reviewed the examination and formulation provided.  I agree with recommendations that were made. 

Michael J. Rivkin, M.D. Attending Physician in Neurology