22nd July 2017

To whom it may concern

The Children’s Hospital of Philadelphia

Roberts Center for Pediatric Research

C/O Intake Co-ordinator, International Patient Services

2716 South Street, 7th Floor

Philadelphia, PA 19146

Re: Markus De Beer

Dear Colleague,

Thank you very much for seeing this 6 month old boy with seizures and an Inherited Error of

Metabolism.

Birth History:

Emergency Caesarean Section for spontaneous preterm labour at 33 weeks gestation

APGAR 8 and 10 (no resuscitation required at birth)

Wt 2.11kg COH 29cm Lth 41cm

NICU: SIMV for 3 days (Curosurf x2 doses) nasal CPAP x 3days. Total days on Oxygen -18

NNJ – phototherapy x 4days

Follow-up visits at 2 weeks, 5weeks, 9weeks, and 12 weeks: nothing of major concern apart from his

colicky symptoms. Neurodevelopmental milestones appropriate for corrected Gestational Age.

Surgical History:

Bilateral Inguinal hernia repair on 04/05/2017 by Prof J Loveland at Sandton Mediclinic.

Feeding:

Initially on breast milk but changed to formula when mother could no longer express enough milk.

He demonstrated signs of feed intolerance with severe colicky symptoms which did not resolved on

Similac Total Comfort but somewhat improved on Neocate. His parents later changed him to Isomil

(Neocate was becoming unaffordable) and fortunately he seemed to tolerate that as well.

Medical History:

Admitted by my colleague on 27/05/17 in status epilepticus (his first ever witness seizure episode).

CSF, bloods, septic work-up, MRI brain – all appeared normal and his seizures resolved on

Phenobarbitone 3mg/Kg and Epilim 20mg/kg daily. His symptoms relapsed after a few weeks and

his medication was changed, we stopped Epilim, continued with Phenobarbitone and introduced

Keppra at 10mg/kg/day (0.3ml BD).

He had recently been review by a Paediatric Neurologist (Dr M Lippert) who suggested higher doses

of his medication Phenobarbitone 30mg daily and Levetiracetam (Keppra 100mg BD)as well as

additional Clonazepam Drops (3 PO as required, or 1 BD if adequate control is still not achieved).

The difficulty I am faced with is that he continues to fit almost daily and sometimes according to the

family, several times a day, brief and slightly prolonged episodes.

His inborn errors of metabolism screen (copy attached) are suggestive of 1) Mitochondrial Disorder

OR 2) Pyruvate Carboxylate Deficiency OR 3) 3-Hydroxyisobutyrate dehydrogenase deficiency. I

have attached all his most recent blood results, a copy of his most recent EEG etc.

Kind regards,

Dr Ishmael Mohlabi