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Biomedical subjects

E Lachmann

Publications and source records attributed to E Lachmann.

At least 19 recordsLinked to original sources

Thoracic disk herniation presenting as abdominal and pelvic pain: a case report.

We report the case of a young woman who presented with a 2-month history of severe abdominal and pelvic pain. The past history was significant for a fall from a bicycle 1 week before the onset of her pain. Physical examination was remarkable for periumbilical tenderness. Work-up including pelvic sonogram and diagnostic laparoscopy suggested endomyometritis. The pain was minimally relieved by nonsteroidal anti-inflammatory drugs and narcotic analgesics. Thoracic spine magnetic resonance imaging (MRI) revealed a large disk herniation at the T9-10 level compressing the spinal cord. The patient subsequently underwent T9-10 diskectomy and laminectomy with dramatic relief of her symptoms. Postoperative rehabilitation hastened her functional improvement. This is a rare case of symptomatic thoracic disk herniation after trauma presenting as abdominal and pelvic pain. Physicians should be aware of this unusual presentation of thoracic disk herniation to avoid invasive diagnostic procedures.

Abdominal Pain↗

Paraneoplastic cerebellar degeneration as the first manifestation of cancer.

Paraneoplastic cerebellar degeneration (PCD) is a type of paraneoplastic syndrome that primarily affects women with gynecological cancers. Patients typically experience pancerebellar symptoms, including gait ataxia, dysarthria, nystagmus, and truncal and appendicular ataxia. We present the case of a 50-year-old woman with PCD and presumed ovarian cancer who initially complained of ataxia and dysarthria. PCD was diagnosed on the basis of her symptoms, diagnostic imaging, and laboratory work. PCD symptoms may precede the diagnosis of malignancy by months or years. Early diagnosis and treatment of these syndromes, including rehabilitation, may result in improvements in quality of life for this population of patients.

Diagnosis, Differential↗

Sacral insufficiency fractures: a report of two cases and a review of the literature.

Sacral insufficiency fractures (SIF) are a type of stress fracture that occur primarily in postmenopausal women. They were first described in 1982 by Lourie and have since been frequently overlooked as a cause of low back, buttock, or groin pain. We present two cases of SIF to demonstrate the clinical presentation, diagnosis, and treatment of patients with SIF. Both patients were elderly women with complaints of pelvic and low back pain in the absence of significant trauma. Physical examination was significant for marked sacral tenderness. Diagnostic imaging supported the diagnosis of SIF. Both patients underwent early rehabilitation, including early ambulation, and had good functional outcomes. These patients serve to illustrate how conservative treatment yields excellent clinical results in the majority of patients, with most reporting improvement within 1-2 weeks after fracture and complete resolution of symptoms after 6-12 months of treatment.

Accidental Falls↗

Unilateral extremity swelling in female patients with cancer.

Unilateral extremity swelling may be secondary to two major causes in female patients with cancer, deep venous thrombosis (DVT) and lymphedema. In women of all ages, DVT is high on the differential diagnosis list for unilateral extremity swelling. However, in women with an underlying malignancy, DVT and lymphedema must both be considered. Appropriate diagnosis and treatment are necessary to improve the quality of life and function of the female patient with cancer.

Female↗

Paraneoplastic cerebellar degeneration as the first evidence of cancer: a case report.

Paraneoplastic cerebellar degeneration (PCD) is the most frequently seen paraneoplastic syndrome affecting the brain. PCD is most commonly associated with cancers of the ovary, breast, and lung. The anti-Purkinje cell antibodies (anti-Yo) that specifically damage the Purkinje cells of the cerebellum are found in the patient's serum and cerebrospinal fluid. The typical presentation of PCD includes limb and truncal ataxia, often along with dysarthria. This report describes the case of a 47-year-old woman without significant medical history who developed new onset of unsteady gait, headache, and vertigo. The imaging studies suggested rhombencephalitis. The patient initially responded to corticosteroid treatment. Unfortunately, her gait ataxia worsened and she developed dysarthria, neither of which responded to increasing dosages of corticosteroids. Extensive imaging studies showed no evidence of tumor, but the patient was found to have positive anti-Yo antibodies and elevated cancer antigen 125 (CA-125). Pathology results from exploratory laparotomy revealed stage III C adenocarcinoma of the ovary. This case demonstrates that PCD may be the presenting symptom of an occult malignancy. The pathogenesis, diagnosis, and treatment of PCD, and its rehabilitation implications, are reviewed.

Activities of Daily Living↗

Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.

UNLABELLED: We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. CONCLUSION: This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.

Abnormalities, Multiple↗

Lymphedema of the limb. An overview of treatment options.

In developed countries, prevalence is increasing of malignancy-related secondary lymphedema, usually resulting from lymph node resection or irradiation. Untreated lymphedema usually increases over time, and the physical and psychological sequelae in even mild cases demand appropriate diagnosis and treatment. Patients should be referred to a clinic familiar with the treatment of lymphedema, and therapy should be customized to optimize patient compliance. Treatment programs do exist, but clinicians who are unfamiliar with them may find it difficult to determine the best program for individual patients. Currently, most lymphedema clinics favor the use of MLT-CPT for significant lymphedema.

Combined Modality Therapy↗

Tethered thoracic cord resulting from spinal cord herniation.

Tethered cord syndrome (TCS) usually involves tethering of the lower cord at the conus medullaris from dural abnormalities, but may occur after spinal cord herniation. A tethered thoracic spinal cord is rare. We present an unusual case of a 30-year-old woman with a history of myelopathy presumed to be secondary to T6 cord compression resulting from T6-T8 arachnoid cyst. She continued to deteriorate after partial excision of the cyst. Repeat magnetic resonance imaging suggested recurrence of the presumed arachnoid cyst with cord compression and showed tethering at T6-T8. Surgical exploration revealed myelocele with cord herniation through the anterior thoracic dura. Pathologic diagnosis showed neural tissue with gliosis. After physical therapy treatments, the patient had increased lower extremity strength, ambulated with a cane, and regained some bladder control. Progressive myelopathy may represent tethering of the cord resulting from cord herniation. Early recognition of TCS, even in patients with minimal neurologic deficits, could prevent progressive disability.

Adult↗

Upper limb reflex sympathetic dystrophy associated with occult malignancy.

Reflex sympathetic dystrophy, characterized by pain, swelling, vasomotor instability, and trophic changes in an extremity, has been infrequently described in patients with occult malignancy. Two cases of reflex sympathetic dystrophy associated with local tumor involvement are reported. Both patients had a history of cancer in clinical remission. Despite aggressive physical therapy measures, the patients' symptoms persisted. Workup of the first patient found an apical paravertebral mass in the lung; biopsy revealed recurrent breast carcinoma. In the second case, workup found an axillary mass contiguous with the lower brachial plexus. Biopsy revealed lymphoma, a second primary malignancy. In both cases, medical treatment of the tumor was instituted, with consequent improvement of hand and shoulder function. Both patients required prolonged hospitalization and multiple procedures that might have been avoided if malignancy had been suspected. Spontaneous development of reflex sympathetic dystrophy in patients with a history of cancer should alert the physician to the possibility of occult malignancy.

Adenocarcinoma↗

Pelvic insufficiency fractures after irradiation: diagnosis, management, and rehabilitation.

Insufficiency fractures of the pelvis are commonly overlooked as causes of severe hip and low back pain. Predisposing factors include postmenopausal osteoporosis, corticosteroids, and local irradiation. Differential diagnosis includes metastatic disease to bone. We present the case of a 65-year-old woman who had a two-month history of low back pain and left groin pain. Her medical history included osteoporosis and endometrial cancer that was treated with radiation therapy to the pelvis 1 year prior to presentation. Despite bed rest, analgesics, and therapeutic modalities, her pain remained intractable and prevented ambulation. Plain radiographs showed no fracture. Computed tomography (CT) and magnetic resonance imaging showed fractures of the pelvis but were suggestive of malignancy. CT-guided bone biopsy was consistent with radiation osteonecrosis. After diagnosis and continued therapy, the patient progressed to ambulation with moderate discomfort. Failure to diagnose insufficiency fractures could lead to further pelvic irradiation, compromising already weakened bones and causing prolonged disability.

Aged↗

Lumbosacral radiculopathy secondary to L5 metastatic melanoma of unknown primary.

Lumbosacral radiculopathy secondary to spinal malignancy is rare. Spinal melanoma without cutaneous manifestations is even more unusual. We present the case of a 45-year-old physician with a history of degenerative disease of lumbar spine and chronic back pain who presented with increasing back pain with right radiculopathy despite conservative management for 6 months. Computed tomography showed a destructive lesion of the L5 vertebral body. Results from a biopsy guided by computed tomography suggested neoplasm of unknown origin. The patient underwent anterior vertebrectomy with instrumentation and fusion. Surgical pathology study results showed metastatic melanoma of unknown primary. The patient had no cutaneous manifestation of the disease. This is the first reported case of radiculopathy due to melanoma metastatic to the lumbar spine. In view of the atypical presentation of our patient's malignancy, we emphasize the importance of including malignancy of lumbar spine in the differential diagnosis of progressive lower back pain with radiculopathy.

Biopsy↗

Neurosarcoidosis of the conus medullaris and cauda equina presenting as paraparesis: case report and literature review.

Sarcoidosis is a multi-system, non-caseating granulomatous disease of unknown etiology. Although spinal cord involvement is rare, it may cause severe neurological complications. We report the case of a 52-year-old woman who developed low back pain and a progressive flaccid paraparesis whose investigations revealed pulmonary and spinal sarcoidosis. To our knowledge, this is the first reported case of sarcoidosis of the conus medullaris and cauda equina diagnosed by an unusual enhancement pattern observed on magnetic resonance imaging with gadolinium. Biopsy of the lumbar nerve roots and of the lung revealed a non-caseating granuloma. Treatment with steroids and intensive rehabilitation resulted in remarkable functional improvement. Although rare, sarcoidosis of the conus medullaris and cauda equina should be considered in the differential diagnosis of flaccid paraparesis, particularly in patients with non-diagnostic evaluations.

Anti-Inflammatory Agents↗

Severe polyneuropathy: initial manifestation of Castleman's disease associated with POEMS syndrome.

Castleman's disease is a rare clinicopathological entity characterized by multicentric angiofollicular lymph node hyperplasia. Peripheral neuropathy has infrequently been described in patients with Castleman's disease. A patient is described who presented initially with severe painful sensorimotor polyneuropathy of his lower limbs diagnosed as a plasma cell variant of Castleman's disease associated with features of POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin change). The patient was treated with plasmapheresis, immunosuppressive agents, and intensive rehabilitation. His functional status improved from being wheelchair bound to ambulating independently with crutches. Clinicians should be alert to the relationship of Castleman's disease and mixed polyneuropathy because physical improvement is possible with treatment. Also, the evaluation of patients presenting with peripheral neuropathy of unknown etiology and lymphadenopathy should include lymph node biopsy to rule out Castleman's disease.

Castleman Disease↗

Deletion of 9q22: a new observation suggesting a specific phenotype.

The observation of a mentally retarded 15 months old male infant with a deletion of 9q22q2207 is compared with similar cases published between 1973 and 1991. Facial dysmorphism and abnormalities of the larynx, brain and heart suggest a particular phenotype. The critical region may be at 9q22.

Abnormalities, Multiple↗

Lower extremity weakness as the initial manifestation of lung cancer.

A 55-year-old woman had progressive lower extremity weakness. She had an 80-pack-per-year history of cigarette smoking. Electromyographic findings were consistent with the Lambert-Eaton myasthenic syndrome. Despite a normal chest x-ray, normal laboratory studies, and negative bronchoscopy, investigation for lung cancer was pursued. The final thoracotomy and pathology reports indicated a diagnosis of oat cell carcinoma. After treatment with chemotherapy and radiation therapy, clinical and electrophysiologic findings have resolved. Two years after diagnosis, the patient remains in good health without evidence of recurrence.

Carcinoma, Small Cell↗

[Preventing iron deficiency in breast-fed infants by suitable supplementary food. A prospective, controlled study].

Iron deficiency may develop in prolonged breast feeding. Introduction of beikost (supplementary nutrition) is recommended in Germany for infants after 4 months of age. In a prospective study 73 exclusively breastfed infants at the age of 16 weeks were assigned to one of two feeding groups: 35 infants received a meat vegetable dinner fortified with iron-2-sulfate (3 mg iron per 100 kcal) as their first supplementary food. At 20 weeks of age a milk based rice cereal (MBRC) without iron fortification was added as a second beikost meal. The other group comprised 38 infants who first received a MBRC fortified with iron-3-pyrophosphate (3 mg iron per 100 kcal). At 20 weeks of age a non iron fortified vegetable potato dinner was introduced. After 6 months of age the iron fortified meat vegetable dinner was offered to all infants once a day. 26 infants who did not receive this dinner but otherwise were consulted and treated identically served as controls at 12 months of age. At 6 months of age values of hemoglobin, MCV, serum iron, ferritin, and transferrin saturation were higher in the meat dinner group compared to the cereal first group. At 12 months of age this was also true for the meat dinner group compared to the controls. However, the differences were minor and statistically not significant. Whereas most of the indicators of iron nutritional status were within the lower normal range, and total iron intake was below the levels recommended by German and American authorities, recommending two iron fortified beikost meals between age 7 and 12 months appears to be justified.

Anemia, Hypochromic↗