We report the case of a Caucasian girl with trisomy 9p and family history of an older brother and twin sister having the same syndrome [1]. The patient was born as twin A (birth weight 1800 g, length 45 cm) and showed dysmorphic features from birth including a large fontanel, low-hanging ears, and a bulbous nose (cf. Fig. 2C in Ref. [1]). Clinodactyly, for example, short fifth fingers with only on flexion joint and palms with singular crease, was likewise noted [1]. At birth, the head circumference was below average and like twin B.
At 20 months, her general practitioner discovered an acceleration in head circumference growth to two SD above average, compared with her twin sister (average for age). It was further noted that the girl was not able to walk independently yet, but apart from this there was no signs of neurological compromise, pain, or growth retardation. MRI of the brain showed enlarged lateral ventricles with a prominent choroid plexus (Fig. 1). At first, aqueduct stenosis was suspected, but this was later disproved by ventriculoscopy and ventriculography. Therefore, the patient was treated with a VP shunt at 2 years of age. On the second postoperative day, she showed signs of massive CSF accumulation into the abdominal cavity and fluid leakage through the abdominal cicatrices. Revision of the shunt showed no leakage and confirmed a functioning shunt system. The clinicians concluded that the CSF formation greatly exceeded the ability of the patient’s abdominal absorptive capability. Subsequently, the VP shunt was replaced with a VA shunt during the same admission.
At 6 years of age, the girl was now attending special classes due to slight psychomotor compromise, but she had language and independent ambulatory function. However, due to irregular episodes of headache and vomiting, hydrocephalus was suspected, resulting in an X-ray image showing displacement of the atrial part of the drain due to growth. Surgically prolongation of the drain was successfully performed, relieving the pressure symptoms.
At 14 years of age, irregular episodes of headache and vomiting reappeared. Shunt dysfunction was suspected, and cerebral MRI showed a large occipital cyst in contact with the right lateral ventricle. Operative fenestration was performed, successfully relieving the symptoms.
At 16 years of age, the patient was diagnosed with cardiomyopathy based on transthoracic echocardiography (TTE) showing dilation of the left ventricle and diminished ejection fraction (EF, 49%). The TTE was performed because her twin sister had been diagnosed with cardiomyopathy several years before. Subsequent pharmacological treatment with ramipril was started.
Some months later, the patient was admitted to the neurosurgical ward showing signs of shunt dysfunction (that is, headache, vomiting, and tiredness). The neurological examination did not reveal any specific compromise, but subsequent ophthalmological examination (fundus photography) revealed papilledema, supporting the clinical suspicion of raised intracranial pressure (ICP). MRI of the brain was performed and showed a colloid cyst in the third ventricle, possibly occluding the foramen of Monro (Fig. 2).
Cystic drainage through endoscopic puncture only helped temporarily. Revision of the shunt system showed occlusion of the ventricular drain, and replacement was likewise only temporary alleviating as the symptoms of headache, vomiting, and tiredness reappeared within 24 hours. Accordingly, the ICP was monitored by placement of an intracranial ICP monitor and found to be significantly increased at around 30 mmHg, prompting externalization of the drain and measurements of CSF production. Externalization of the drain relieved all clinical symptoms, but measurements revealed high CSF production of 60–100 ml liquor per hour. Endoscopic visualization showed that the choroid plexus was enlarged, hypertrophic, and well vascularized. Choroid plexus coagulation was performed bilaterally in the lateral and temporal horn of the ventricles, leading to an immediate decrease of daily CSF formation to 20–30 ml liquor per hour. Pharmaceutical treatment with acetazolamide 100 mg/kg/day and furosemide 1 mg/kg/day [12] diminished daily CSF production to approximately 300 ml. Subsequently a VP shunt (DeltaSnap 1.0) was placed, and the remaining admission was uneventful.
Follow-up after 1 and 2 months displayed no signs of hydrocephalus or ascites. No complications or neurological deficits were found. At a regular follow-up 10 months later, it was noted that the girl trived and was more active and less tired in school and at home.