Nederlands tijdschrift voor geneeskunde, Jan 5, 2005
Two patients with a bipolar disorder, a woman aged 56 and a woman aged 68, who had used lithium f... more Two patients with a bipolar disorder, a woman aged 56 and a woman aged 68, who had used lithium for more than 30 years, were seen with side effects from this medication. Both patients were treated by their general practitioner and had not visited a psychiatrist for many years. The first patient had a chronic lithium intoxication with cerebellar signs and eventually coma, diabetes insipidus, hyperthyroidism, hyperparathyroidism and psoriasis. After 6 weeks of treatment in the intensive-care unit she made a good recovery. The second patient had several lithium side effects. She was diagnosed with diabetes insipidus, hyperparathyroidism due to a parathyroid adenoma, hypothyroidism and a sick-sinus syndrome. A pacemaker was implanted 4 years earlier. The adenoma was surgically removed. After other medication was tried, the patient was once again given lithium, on which she was able to function well. The first patient had lithium concentrations above the therapeutic value for several yea...
Elucidation of the genetic defect in tuberous sclerosis (TS) awaits a precise chromosomal localiz... more Elucidation of the genetic defect in tuberous sclerosis (TS) awaits a precise chromosomal localization. At present two chromosomal regions, 9q34 and 11q23, are candidates for the site of a TS locus. Family studies using polymorphic DNA markers are carried out in other laboratories and in ours and are expected to disclose the existence of one TS gene that is localized on either chromosome 9 or 11, or the involvement of two genes, one on #9 and one on #11. Early postnatal and potentially prenatal diagnosis by means of DNA analysis may be offered to a family with TS after identification of the gene defect, but also after the identification of very closely linked DNA markers.
European Journal of Obstetrics Gynecology and Reproductive Biology, Nov 1, 1993
With more aggressive surgical management, patients born with spina bifida may now reach adulthood... more With more aggressive surgical management, patients born with spina bifida may now reach adulthood and achieve pregnancies. Any female patient with spina bifida is strongly recommended to have preconceptional genetic counselling. The risk for parents with spina bifida of having affected offspring (approx. 4%) is considerably increased compared with the general population (0.1-0.3%). This risk may be lowered when periconceptional folic acid supplements are given. In pregnancy, special care is needed in the management of urological, obstetric, neurological and anaesthetic problems. Urological complications like neurogenic bladder, incontinence, chronic infection, increased chance of developing bladder carcinoma and impaired renal function are common in the spina bifida patient. In case of urinary diversion, obstruction may complicate the pregnancy. The incidence of premature labour is increased. Clinical assessment of the pelvis is necessary because of a possibly contracted pelvis. If the head engages normally, vaginal delivery should be allowed if possible. Caesarean section should be performed for obstetric reasons only. Cerebrospinal fluid shunts may give neurological problems during pregnancy. In most cases reported, symptoms improved spontaneously after delivery. In case of a shunt, vaginal delivery is preferable, pushing during second stage not contra-indicated, and in case of caesarean section, prophylactic antibiotics and thorough irrigation of the peritoneal cavity are indicated.
Journal of Neurology Neurosurgery and Psychiatry, 1986
A case of concordant oligodendroglioma in monozygotic twins is reported. The twins were also conc... more A case of concordant oligodendroglioma in monozygotic twins is reported. The twins were also concordant for uterine leiomyoma and one twin partner had fibroadenoma and lipoma of the breast and myelofibrosis. As very few cases of concordant glioma in monozygotic twins have been published and no such cases in dizygotic twins, a genetic influence in the aetiology of glioma can
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, Jan 9, 2015
Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for so... more Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain. Gain-of-function missense mutations in SCN8A are thought to lead to increased firing of excitatory neurons containing Nav1.6, and therefore to lead to increased seizure susceptibility. We hypothesized that sodium channel blockers could have a beneficial effect in patients with SCN8A-related epilepsy by blocking the overactive Nav1.6 and thereby counteracting the effect of the mutation. Herein, we describe 4 patients with a missense SCN8A mutation and epilepsy who all show a remarkably good response on high doses of phenytoin and loss of seizure control when phenytoin medication was reduced, while side effects were relatively mild. In 2 patients, repeated withdrawal of phenytoin led to the reoccurrence of seizures. Based on the findings in these patients and the underlying molecular mechanism we consider treatment with (high-dose) phenyt...
Nederlands tijdschrift voor geneeskunde, Jan 5, 2005
Two patients with a bipolar disorder, a woman aged 56 and a woman aged 68, who had used lithium f... more Two patients with a bipolar disorder, a woman aged 56 and a woman aged 68, who had used lithium for more than 30 years, were seen with side effects from this medication. Both patients were treated by their general practitioner and had not visited a psychiatrist for many years. The first patient had a chronic lithium intoxication with cerebellar signs and eventually coma, diabetes insipidus, hyperthyroidism, hyperparathyroidism and psoriasis. After 6 weeks of treatment in the intensive-care unit she made a good recovery. The second patient had several lithium side effects. She was diagnosed with diabetes insipidus, hyperparathyroidism due to a parathyroid adenoma, hypothyroidism and a sick-sinus syndrome. A pacemaker was implanted 4 years earlier. The adenoma was surgically removed. After other medication was tried, the patient was once again given lithium, on which she was able to function well. The first patient had lithium concentrations above the therapeutic value for several yea...
Elucidation of the genetic defect in tuberous sclerosis (TS) awaits a precise chromosomal localiz... more Elucidation of the genetic defect in tuberous sclerosis (TS) awaits a precise chromosomal localization. At present two chromosomal regions, 9q34 and 11q23, are candidates for the site of a TS locus. Family studies using polymorphic DNA markers are carried out in other laboratories and in ours and are expected to disclose the existence of one TS gene that is localized on either chromosome 9 or 11, or the involvement of two genes, one on #9 and one on #11. Early postnatal and potentially prenatal diagnosis by means of DNA analysis may be offered to a family with TS after identification of the gene defect, but also after the identification of very closely linked DNA markers.
European Journal of Obstetrics Gynecology and Reproductive Biology, Nov 1, 1993
With more aggressive surgical management, patients born with spina bifida may now reach adulthood... more With more aggressive surgical management, patients born with spina bifida may now reach adulthood and achieve pregnancies. Any female patient with spina bifida is strongly recommended to have preconceptional genetic counselling. The risk for parents with spina bifida of having affected offspring (approx. 4%) is considerably increased compared with the general population (0.1-0.3%). This risk may be lowered when periconceptional folic acid supplements are given. In pregnancy, special care is needed in the management of urological, obstetric, neurological and anaesthetic problems. Urological complications like neurogenic bladder, incontinence, chronic infection, increased chance of developing bladder carcinoma and impaired renal function are common in the spina bifida patient. In case of urinary diversion, obstruction may complicate the pregnancy. The incidence of premature labour is increased. Clinical assessment of the pelvis is necessary because of a possibly contracted pelvis. If the head engages normally, vaginal delivery should be allowed if possible. Caesarean section should be performed for obstetric reasons only. Cerebrospinal fluid shunts may give neurological problems during pregnancy. In most cases reported, symptoms improved spontaneously after delivery. In case of a shunt, vaginal delivery is preferable, pushing during second stage not contra-indicated, and in case of caesarean section, prophylactic antibiotics and thorough irrigation of the peritoneal cavity are indicated.
Journal of Neurology Neurosurgery and Psychiatry, 1986
A case of concordant oligodendroglioma in monozygotic twins is reported. The twins were also conc... more A case of concordant oligodendroglioma in monozygotic twins is reported. The twins were also concordant for uterine leiomyoma and one twin partner had fibroadenoma and lipoma of the breast and myelofibrosis. As very few cases of concordant glioma in monozygotic twins have been published and no such cases in dizygotic twins, a genetic influence in the aetiology of glioma can
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, Jan 9, 2015
Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for so... more Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain. Gain-of-function missense mutations in SCN8A are thought to lead to increased firing of excitatory neurons containing Nav1.6, and therefore to lead to increased seizure susceptibility. We hypothesized that sodium channel blockers could have a beneficial effect in patients with SCN8A-related epilepsy by blocking the overactive Nav1.6 and thereby counteracting the effect of the mutation. Herein, we describe 4 patients with a missense SCN8A mutation and epilepsy who all show a remarkably good response on high doses of phenytoin and loss of seizure control when phenytoin medication was reduced, while side effects were relatively mild. In 2 patients, repeated withdrawal of phenytoin led to the reoccurrence of seizures. Based on the findings in these patients and the underlying molecular mechanism we consider treatment with (high-dose) phenyt...
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