These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.

Arterial and venous thrombotic events can lead to severe complications in the nephrotic syndrome, but may remain clinically silent in a substantial proportion of patients. Intracardiac thrombi associated with multiorgan thrombosis have been described in autopsy cases of the earlier literature, but have never been documented in vivo. We here report an asymptomatic intracardiac thrombus in a child with frequently relapsing steroid-sensitive nephrotic syndrome and a ventricular septal defect.

A 23-month-old girl of consanguineous parents suffering from infantile neuronal ceroid lipofuscinosis (INCL) was studied with magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). A progressive reduction of brain volume was documented in two MRI studies within 2 months. Quantitative measurements of the T2 relaxation times showed a shorter T2 value of the thalamus bilaterally. A reduced concentration of N-acetylaspartate (NAA), and an elevated level of myo-inositol (mI) and lactate (Lac) in white matter were detected by MRS. Differential diagnosis of INCL, rather than Rett syndrome, a disease that evokes a similar clinical syndrome as INCL does, was made mainly based on the MRS data. Absence of the enzyme palmitoyl-protein-thioesterase 1 and a corresponding gene mutation in biochemical studies confirmed INCL. ZusammenfassungEin 2-jähriges Mädchen aus konsanguiner Familie mit infantiler neuronaler Ceroidlipofuscinose (INCL) wurde mit Magnetresonanztomographie (MRT) und -spektroskopie (MRS) untersucht. Die beiden MRT-Untersuchungen im zeitlichen Abstand von 2 Monaten zeigten eine rasch progrediente Hirnvolumenminderung. Eine quantitative Messung der T2-Relaxationszeit ergab verkürzte T2-Werte des Thalamus beidseits im Vergleich zu Werten bei einer gleichaltrigen Kontrollperson. Die MR-Spektren zeigten eine deutlich verminderte Konzentration von N-Acetylaspartat (NAA) und erhöhte Konzentrationen von myo-Inositol (mI) und Lactat (Lac). Die hauptsächlich aufgrund des MRS-Befunds vorgeschlagene Diagnose INCL wurde durch molekulare und genetische Untersuchungen bestätigt, wobei eine fehlende Aktivität des lysosomalen Enzyms Palmitoyl-Protein-Thioesterase 1 (PPT1) im Blut feststellbar war und im entsprechenden Gen (CLN1) eine Mutation gefunden wurde.Schlüsselwörter: Infantile neuronale Ceroidlipofuscinose · Kreatin · Lactat · Myo-Inositol · MR-Spektroskopie · N-acetylaspartat · Rett-Syndrom

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