Unusual Late Neurological Sequelae in Galactosaemia

Abstract

SUMMARY Unusual neurological findings are reported in a patient whose galactosaemia had been treated early and adequately. Progressive cerebellar and extrapyrimidal disturbance occurred, but the more common ocular, hepatic and renal involvement did not. Amantadine and propranolol were helpful, but only to a limited degree. RÉSUMÉ Séquelles neurologiques tardives inhabituelles dans un cas de galactosémie Des manifestations neuro‐tardives ont été observées chez un sujet dont la galactosémie avait été traitée précocément et correctement. Des troubles progressifs, cerebelleux et extrapyramidaux se manifestérent, mais sans les traductions habituelles oculaires, hépatiques et renalés. L'amantadine et la propranolol se montrèrent efficaces mais à un degré limité. ZUSAMMENFASSUN Ungewöhnlich späte neurologische Folgeerscheinungen bei Galaktosämie (Darstellung eines Falles) Es wird über ungewöhnliche neurologische Befunde bei einem Patienten mit Galaktosémie berichtet, der frühzeitig und ausreichend behandelt worden war. Während fortschreitende cerebelläre und extrapyramidale Störungen in Erscheinung traten, wurden die bekannten Beteiligungen der Augen, Leber und Nieren nicht beobachtet. Amantadin und Propranolol waren therapeutisch begrenzt wirksam. RESUMEN Secuelas neurológicas tardias no usuales en la galactosemia (aportacíon de un caso) Se aportan hallazgos neurológicos no usuales en un paciente cuya galactosemia había sido tratada precoz y adecuadamente. Apareció una alteración progresiva cerebelosa y extrapiramidal, pero las alteraciones más corrientes oculares, hepáticas y renales no aparecieron. La amantadine y el propanolol fueron eficaces pero sólo hasta un cierto grado.

Cross‐sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia

“…Speech impairment, such as late onset of speech, lack of speech clarity, and impaired expressive language have been reported in 22-100% of patients with galactosemia older than 3 years depending on the cohort studied and the way of gathering information (Antshel et al 2004;Friedman et al 1989;Hansen et al 1996;Jan and Wilson 1973;Koch et al 1992;Nelson et al 1991;Nelson 1995;Potter et al 2008;Robertson and Singh 2000;Scheibenreiter et al 1992;Schweitzer et al 1993;Waggoner et al 1990;Waisbren et al 1983;Webb et al 2003). However, only a few of these studies used standardized and validated instruments to evaluate speech performance (Nelson et al 1991;Potter et al 2008;Robertson and Singh 2000;Webb et al 2003).…”

Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia

“…However, these studies have not used well-developed or consistent criteria to diagnose CAS in GALT. Of the 13 studies reporting speech disorders in galactosemia, five used observational reports (Hughes et al, 2009; Jan & Wilson, 1973; Koch, Schmidt, Wagstaff, Ng, & Packman, 1992; Lee, 1972; Sommer et al, 1995), three used language tests (Waisbren, Norman, Schnell, & Levy, 1983; Schweitzer, Shin, Jakobs, & Brodehl, 1993; Hansen et al, 1996), two used parent questionnaires (Waggoner et al, 1990; Waggoner & Buist, 1993), two used the Apraxia Profile with a subset of participants (Robertson, Singh, Guerrero, Hundley, & Elsas, 2000; Webb et al, 2003), and one used a checklist of speech characteristics, testing some participants in person and others by telephone (Nelson et al, 1991). Detailed study of the speech of children and adolescents with this complex neurodevelopmental disorder using well-developed contemporary methods has the potential to contribute to clinical management issues in galactosemia and to inform descriptive-explanatory accounts of the origin and nature of CAS.…”

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

“…In addition to the above well known diet-independent complications (Nelson et al 1991;Schweitzer et al 1993;Guerrero et al 2000;Robertson et al 2000;Webb et al 2003;Gubbels et al 2008;Berry 2008;Potter et al 2008), we now know that additional complications include poor growth and/or short stature, reduced bone mineral density, deficits in personality construct, mood disorder, tremor, cerebellar ataxia and extrapyramidal movement disorders (Kaufman et al 1993;Rubio-Gozalbo et al 2002;Leslie 2003;Bosch 2006;Panis et al 2007). In some instances, discrete neurological, imaging and neuropathological findings have been recorded (Crome 1962;Huttenlocher et al 1970;Haberland et al 1971;Jan and Wilson 1973;Nelson et al 1992;Belman et al 1986;Bohles et al 1986;Koch et al 1992;Kaufman et al 1995;Ridel et al 2005;Hughes et al 2009). What we don't know is how frequently each of these entities occurs in patients with classic and variant galactosemia at different stages of fetal and postnatal maturation including adulthood.…”