A 36-year-old woman was admitted for surgical intervention of a 4th ventricle lesion suggestive of desmoid tumor.
The patient was diagnosed at 6 years of congenital hypercholesterolemia in adulthood, which was confirmed by genetic study, presenting a deficit of OTC due to heterozygous mutation 407 A > 7 in the X chromosome. Among the family history,
Two sisters lived healthy.
Home treatment consisted of dietary measures with protein restriction and supplementation of L-score.
One year before admission, she started treatment with sodium phenylbutyrate due to hypercholesterolemia despite dietary measures.
She remained stable without serious complaints in recent years.
At the age of 36 years, a cranial magnetic resonance imaging was performed, and an incidentaloma was detected in the fourth ventricle consistent with a desmoid tumor.
Although the patient was asymptomatic, surgical intervention was decided to remove the lesion.
Upon admission, the patient was in good general condition, neurological examination, and the levels of phenylbutyrate were normal at a dose of 1.5 g/day.
She underwent a posterior craniotomy without complications.
Pathology reported that the lesion was an epidermoid cyst.
The evolution after surgery was initially good, however, on the fifth postoperative day, it began with restlessness that progressed to agitation, temporospatial disorientation and intentional tremor.
The physical examination detected signs of infection of the surgical wound and the urgent analytical showed hypercholesterolemia of 114 mcmol/l (reference values (6.5-53 mcmol/l)).
Diagnosis of hyperaemic encephalopathy was established through intensive care.
Treatment was initiated with sodium phenylbutyrate at a dose of 940 mg/g 7.5 g/12 h and sodium benzoate 7.5 /8h through a nasogastric tube and intravenous lt.
Regarding nutritional support, parenteral nutrition was administered based on carbohydrates and lipids, followed by hypoproteic enteral nutrition through NGT.
The aminotransferase increased, despite medical treatment, to 210 mcmol/l, and hemodialytic therapy was initiated.
The evolution in the ICU was torpid due to the difficult control of hypercholesterolemia (values up to 912 mcmol/l).
The infection of the surgical wound was resolved with antibiotic therapy but the patient complicated with a respiratory infection by Acinetobacter Baumani and required percutaneous angioplasty for ventilation.
After 16 days in the ICU with the support previously mentioned, the patient was admitted with severe neurological deterioration but was referred to the Nutrition Unit for continued treatment.
On neurological examination, she responded only to simple orders and had residual tetraparesis with neurogenic dysphagia.
Acidemia was controlled with values around 50 mcmol/l.
Due to neurogenic dysphagia and to ensure adequate intake, percutaneous endoscopic gastrostomy (PEG) was performed for enteral Factor placement according to the hypoproteic enteral formula with essential amino acid supplements (Suplena®, Abbott Laboratory).
A few days after the transfer, the patient suffered a new episode of respiratory hyperinfection due to a conservative treatment decided jointly with the family.
Antibiotic treatment was established and chelating treatment with phenylbutyrate and sodium benzoate was maintained.
Hypokalemia and hypernatremia occurred as a result of treatment with serum chelating agents, which were treated with potassium hydroxide and ammonium sulfate.
With this treatment, the general and neurological evolution was favorable, with improvement in the level of relationship and dysphagia, allowing outpatient management through dietetic and pharmacological treatment, although in a situation of dependence for basic activities of daily living.
At discharge, a program of enteral nutrition (EN) through gastrostomy was established, after teaching the management of HEN to the patient's husband.
He followed revisions in Nutrition consultation, maintaining clinical and analytical stability.
His level of autonomy increased and he walked on his own.
Unfortunately a few months after discharge the patient developed severe urinary sepsis, did not respond to conservative treatment and died.
During this admission, the patient remained asymptomatic.
